ClinVar Miner

List of variants reported by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Minimum conflict level:
ClinVar version:
Total variants: 511
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_016519.6(AMBN):c.882C>A (p.His294Gln) rs113506649 0.01779
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg) rs142733791 0.00263
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) rs150548113 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_201596.3(CACNB2):c.121-4T>G rs74120235 0.00088
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_001145715.3(KPNA7):c.461A>T (p.Glu154Val) rs200308603 0.00069
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) rs41273880 0.00066
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_138425.4(C12orf57):c.257A>G (p.Lys86Arg) rs139068225 0.00059
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) rs143671350 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001353108.3(CEP63):c.668A>G (p.Asn223Ser) rs140583017 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His) rs201420492 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) rs201383337 0.00025
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) rs368380934 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_001034116.2(EIF2B4):c.398_406del (p.Thr133_Glu136delinsLys) rs769575268 0.00021
NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr) rs200983489 0.00021
NM_001366722.1(GRIP1):c.1688-3T>C rs185129168 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 0.00021
NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln) rs373215657 0.00021
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln) rs138914992 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_182919.4(TICAM1):c.470C>T (p.Thr157Met) rs770166865 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_001048166.1(STIL):c.1374C>G (p.His458Gln) rs527253805 0.00014
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg) rs142275662 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000281.4(PCBD1):c.205G>A (p.Val69Met) rs200188190 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) rs201801258 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile) rs147564959 0.00009
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys) rs543584983 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_015681.6(B9D1):c.341+2T>C rs143149764 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_173076.3(ABCA12):c.5548T>C (p.Ser1850Pro) rs151083083 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000055.4(BCHE):c.1330G>A (p.Ala444Thr) rs201490686 0.00006
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln) rs142601828 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser) rs376564758 0.00004
NM_001144757.3(SCG5):c.532C>T (p.Arg178Ter) rs200799739 0.00004
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu) rs767949941 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002474.3(MYH11):c.769G>A (p.Val257Met) rs112992497 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) rs780659624 0.00004
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu) rs1054346747 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) rs372808540 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_017849.4(TMEM127):c.398A>G (p.His133Arg) rs587782203 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter) rs369793306 0.00003
NM_032634.4(PIGO):c.1991G>A (p.Arg664Gln) rs371923881 0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) rs367619172 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter) rs769873284 0.00002
NM_001367561.1(DOCK7):c.38+6T>C rs1029588198 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_006231.4(POLE):c.6776G>A (p.Arg2259Gln) rs762044635 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00002
NM_000038.6(APC):c.2723C>G (p.Ser908Cys) rs746393911 0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=) rs200757418 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252 0.00001
NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter) rs772142634 0.00001
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) rs180824037 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu) rs1057518295 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys) rs147682682 0.00001
NM_001365999.1(SZT2):c.2599G>A (p.Val867Ile) rs768015377 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln) rs375574124 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_018941.4(CLN8):c.614T>C (p.Met205Thr) rs763967636 0.00001
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352 0.00001
NM_020999.4(NEUROG3):c.278G>T (p.Arg93Leu) rs121917838 0.00001
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser) rs121917837 0.00001
NM_021957.4(GYS2):c.1230-1G>A rs766733439 0.00001
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000038.6(APC):c.397T>G (p.Tyr133Asp) rs763487503
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.3(CACNA1S):c.4962C>G (p.Asn1654Lys) rs370339547
NM_000069.3(CACNA1S):c.526G>T (p.Val176Leu) rs571114435
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000169.3(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala) rs1057519255
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000251.3(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000277.1:c.[722delG;c.735G>A]
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000384.3(APOB):c.1830-1G>A rs1399892057
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr) rs1057519258
NM_000541.5(SAG):c.926del (p.Asn309fs) rs587776778
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs) rs1060499782
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11]) rs771450542
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val) rs1595597551
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) rs763461861
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp) rs1556782020
NM_006017.3(PROM1):c.622del (p.Thr208fs) rs766246531
NM_006231.4(POLE):c.4006-1G>T rs1057519256
NM_006231.4(POLE):c.5558T>C (p.Ile1853Thr) rs1057519257
NM_006371.5(CRTAP):c.471+2C>G rs137853943
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser) rs1057519249
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014270.5(SLC7A9):c.749+1G>C rs1060499787
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) rs1555057316
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter) rs387907103
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1]) rs772557308
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter) rs952741388
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) rs2043824248
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_138694.4(PKHD1):c.5023del (p.Ala1675fs) rs797044607
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
Single allele

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