ClinVar Miner

Variants with conflicting interpretations "likely benign" from Natera, Inc. and "uncertain significance" from any submitter

Minimum review status of the submission from Natera, Inc.: Collection method of the submission from Natera, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1134
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_000527.4(LDLR):c.-217C>T rs17249141 0.00338
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser) rs144230667 0.00154
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327 0.00114
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) rs141890870 0.00114
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_032316.3(NICN1):c.*2307G>C rs544461335 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351 0.00081
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00078
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_213653.4(HJV):c.510C>T (p.Phe170=) rs139281553 0.00071
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro) rs115328064 0.00068
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr) rs146222244 0.00054
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000317.3(PTS):c.17G>T (p.Gly6Val) rs138154701 0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_003640.5(ELP1):c.3701-6C>G rs148535504 0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_213653.4(HJV):c.435G>C (p.Pro145=) rs370184725 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_001003722.2(GLE1):c.643-4A>G rs369804957 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn) rs374717566 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000441.2(SLC26A4):c.919-18T>G rs767147359 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_201525.4(ADGRG1):c.1287-6G>A rs112805221 0.00014
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) rs368567109 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) rs567286177 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr) rs375191740 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) rs143819461 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 0.00005
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=) rs754155651 0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000133.4(F9):c.391+4A>G rs749754992 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) rs776361173 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.4345-8C>T rs886044675 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000048.4(ASL):c.99C>G (p.His33Gln) rs142077823
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_004006.3(DMD):c.468A>C (p.Val156=) rs886044031
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe) rs548510701
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_213653.4(HJV):c.345C>T (p.Ile115=) rs142575526

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.