ClinVar Miner

Variants with conflicting interpretations "likely benign" and "pathogenic"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 509

HGVS dbSNP gnomAD frequency
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54337
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NC_000010.11:g.6072697C>A rs41295061 0.06086
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001393392.1(AKR1C2):c.666T>C (p.His222=) rs13222 0.01890
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01697
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_000187.4(HGD):c.1221G>A (p.Ala407=) rs146206905 0.01639
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_003102.4(SOD3):c.691C>G (p.Arg231Gly) rs1799895 0.01087
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
UGT1A1*6 rs4148323 0.00891
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00444
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala) rs17473 0.00322
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met) rs2870984 0.00314
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711 0.00301
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn) rs28936395 0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_014617.4(CRYGA):c.239G>A (p.Arg80His) rs139353014 0.00221
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala) rs143527301 0.00215
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg) rs56025238 0.00181
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser) rs181958589 0.00124
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_001113525.2(ZNF276):c.*841G>A rs191404781 0.00092
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) rs121918530 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr) rs148467625 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) rs139382018 0.00058
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) rs2276717 0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_000041.4(APOE):c.91G>A (p.Glu31Lys) rs201672011 0.00049
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter) rs560912365 0.00048
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00027
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter) rs74315337 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) rs368420430 0.00022
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) rs144099356 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) rs121912645 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser) rs775407864 0.00008
NM_004933.3(CDH15):c.178C>T (p.Arg60Cys) rs121434539 0.00008
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His) rs201947677 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu) rs80358891 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His) rs74315339 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174 0.00001
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001242957.3(MAK):c.7C>T (p.Arg3Ter) rs558628181 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys) rs121908322 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713 0.00001
NM_153676.4(USH1C):c.2547-1G>T rs571304936 0.00001
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1210-11_1210-9delinsG rs2115902456
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
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.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000797.4(DRD4):c.235_247del (p.Ala79fs) rs587776842
NM_001025603.2(RFX5):c.1032C>T (p.Ile344=) rs1557831362
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001453.3(FOXC1):c.-244C>T rs185790394
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_007294.4(BRCA1):c.301+2dup rs273899694
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) rs756800816
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_022124.6(CDH23):c.2359_2382del (p.Leu787_Asp794del) rs886038668
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_198535.3(ZNF699):c.1623_1626del (p.Tyr542fs) rs1238886661
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele rs200202883
m.3308T>C rs28358582

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