ClinVar Miner

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

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

Total variants with conflicting interpretations: 563

HGVS dbSNP
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
GRCh37/hg19 22q11.21(chr22:20733495-21463730)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000031.5(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000040.3(APOC3):c.179+1G>T rs140621530
NM_000044.4(AR):c.1937C>A (p.Ala646Asp) rs1800053
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000059.3(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000063.5(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000067.2(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000070.2(CAPN3):c.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000076.2(CDKN1C):c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro) rs772704243
NM_000078.2(CETP):c.1376A>G (p.Asp459Gly) rs2303790
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000096.3(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000118.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.3(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000154.1(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000166.5(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000171.3(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000193.3(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000211.4(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.4(ITGB2):c.329-6C>T rs9983887
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000228.2(LAMB3):c.628+42G>A rs587776812
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000242.2(MBL2):c.170G>A (p.Gly57Glu) rs1800451
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000257.3(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000264.3(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000275.2(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000321.2(RB1):c.78_80delGCC (p.Pro29del) rs587778823
NM_000331.5(SAA1):c.209C>T (p.Ala70Val) rs1136743
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.3(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000359.2(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000359.2(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000388.3(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000403.3(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000433.3(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000443.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.511G>A (p.Asp171Asn) rs74315466
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) rs2227624
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000503.5(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000504.3(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000514.3(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.4(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) rs879255094
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389+5G>A rs879255191
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000548.4(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000756.3(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_000784.3(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000833.4(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_000890.3(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000941.2(POR):c.15A>G (p.Gly5=) rs10262966
NM_001001557.2(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.3(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001002261.3(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001008211.1(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001018077.1(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_001023570.3(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001038.5(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001039.3(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.3(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001042351.2(G6PD):c.1311T= (p.Tyr437=) rs2230037
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.3(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) rs376633374
NM_001079668.2(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.2(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001099274.2(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.2(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.2(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001106.3(ACVR2B):c.119G>A (p.Arg40His) rs121434437
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001127464.2(ZNF469):c.9011_9025delTTCCCGGGAACACCC (p.Leu3004_Thr3008del) rs281865162
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.2(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001142298.1(SQSTM1):c.-47-1924C>T rs200396166
NM_001145.4(ANG):c.122A>T (p.Lys41Ile) rs121909536
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.4(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.4(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001171.5(ABCC6):c.1141T>C (p.Leu381=) rs72664284
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.2820T>G (p.Arg940=) rs72664286
NM_001171.5(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.662+12C>T rs1555520951
NM_001171.5(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.841A>G (p.Lys281Glu) rs879274205
NM_001171.5(ABCC6):c.855C>T (p.Thr285=) rs4780605
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001198799.2(ASCC1):c.953A>G (p.Asn318Ser) rs146370051
NM_001204.6(BMPR2):c.-669G>A rs115604088
NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577
NM_001242896.1(DEPDC5):c.3265-3C>T rs371377906
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001271.3(CHD2):c.3734delA (p.Lys1245Asnfs) rs752940775
NM_001271.3(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001281723.2(BTD):c.886A>G (p.Ile296Val) rs35976361
NM_001281725.2(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001282225.1(ADA2):c.927G>A (p.Met309Ile) rs146597836
NM_001298.2(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001301339.1(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196
NM_001301339.1(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895
NM_001308117.1(RBFOX1):c.1186G>A (p.Gly396Ser) rs145873257
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001429.3(EP300):c.6627_6638delCCAGTTCCAGCA (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001715.2(BLK):c.*338T>G rs1042695
NM_001715.2(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_001715.2(BLK):c.713G>A (p.Arg238Gln) rs141865425
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001999.3(FBN2):c.3740T>C (p.Met1247Thr) rs149054177
NM_002052.4(GATA4):c.1037C>T (p.Ala346Val) rs115372595
NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_002150.2(HPD):c.1005C>G (p.Ile335Met) rs137852868
NM_002335.3(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) rs201326893
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) rs6336
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002863.4(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003018.3(SFTPC):c.500G>A (p.Arg167Gln) rs34957318
NM_003052.4(SLC34A1):c.654G>A (p.Ala218=) rs150592440
NM_003060.3(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003126.3(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.3(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003244.3(TGIF1):c.320A>T (p.Gln107Leu) rs28939693
NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003597.4(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003977.3(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.3(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003978.4(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004168.3(SDHA):c.1523C>T (p.Thr508Ile) rs151266052
NM_004183.3(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004252.4(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) rs541928674
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004387.3(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004431.4(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614
NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004519.3(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.3(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.3(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004621.5(TRPC6):c.428A>G (p.Asn143Ser) rs121434391
NM_004937.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005148.3(UNC119):c.65G>T (p.Gly22Val) rs199714731
NM_005257.5(GATA6):c.592C>G (p.Leu198Val) rs387906814
NM_005267.4(GJA8):c.741T>G (p.Ile247Met) rs80358202
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005270.4(GLI2):c.4663T>C (p.Ser1555Pro) rs144372453
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005477.2(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_005506.3(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005587.3(MEF2A):c.788A>G (p.Asn263Ser) rs121918530
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005910.5(MAPT):c.14G>A (p.Arg5His) rs63750959
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006172.3(NPPA):c.190A>C (p.Ser64Arg) rs61757261
NM_006269.1(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006308.2(HSPB3):c.21G>T (p.Arg7Ser) rs139382018
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006415.3(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006446.4(SLCO1B1):c.481+1G>T rs77271279
NM_006514.3(SCN10A):c.1661T>C (p.Leu554Pro) rs138404783
NM_006891.3(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006894.5(FMO3):c.769G>A (p.Val257Met) rs1736557
NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007214.4(SEC63):c.1703_1705delAAG (p.Glu568del) rs752018806
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.3(BRCA1):c.301+1G>A rs587782173
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.301+2dupT rs273899694
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_012082.3(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601
NM_012275.2(IL36RN):c.338C>T (p.Ser113Leu) rs144478519
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_014049.5(ACAD9):c.-44_-41dup rs387906242
NM_014139.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175
NM_014141.5(CNTNAP2):c.755-5C>T rs369675346
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464
NM_014236.3(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014491.3(FOXP2):c.50A>T (p.Gln17Leu) rs201649896
NM_014588.5(VSX1):c.50T>C (p.Leu17Pro) rs74315436
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014985.3(CEP152):c.2000A>G (p.Lys667Arg) rs200879436
NM_014985.3(CEP152):c.4210_4211delGT (p.Val1404Phefs) rs141600901
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_016239.3(MYO15A):c.9861C>T (p.Gly3287=) rs372466080
NM_016327.2(UPB1):c.254C>A (p.Ala85Glu) rs34035085
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys) rs3970559
NM_016335.4(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_016599.4(MYOZ2):c.738A>G (p.Ile246Met) rs140126678
NM_016616.4(NME8):c.271-27C>T rs117149381
NM_016953.3(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_017636.3(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.3(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_017636.3(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_018055.4(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018060.3(IARS2):c.2122G>A (p.Glu708Lys) rs143722284
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) rs147205617
NM_018451.4(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_018538.3(ERMAP):c.169G>A (p.Gly57Arg) rs56025238
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_020041.2(SLC2A9):c.592C>T (p.Arg198Cys) rs121908322
NM_020208.3(SLC6A20):c.596C>T (p.Thr199Met) rs17279437
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020361.4(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020630.4(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020632.2(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020634.2(GDF3):c.796C>T (p.Arg266Cys) rs140926412
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_020822.2(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021830.4(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022367.3(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022437.2(ABCG8):c.55G>C (p.Asp19His) rs11887534
NM_024009.2(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.2(GJB3):c.580G>A (p.Ala194Thr) rs117385606
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024729.3(MYH14):c.1126G>T (p.Gly376Cys) rs119103280
NM_025216.2(WNT10A):c.637G>A (p.Gly213Ser) rs147680216
NM_025216.2(WNT10A):c.649G>A (p.Asp217Asn) rs146902156
NM_025216.2(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_030665.3(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032601.3(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_033071.3(SYNE1):c.25237G>A (p.Glu8413Lys) rs119103248
NM_033118.3(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033629.4(TREX1):c.294dupA (p.Cys99Metfs) rs760594164
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_139025.4(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933
NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) rs116529882
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144773.3(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) rs184394424
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_145239.2(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145891.2(RBFOX1):c.737-5C>T rs147023054
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153676.3(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153717.2(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.3(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_173076.2(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_194248.2(OTOF):c.1194T>A (p.Asp398Glu) rs181805996
NM_194248.2(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987
NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_207034.2(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344
NM_207352.3(CYP4V2):c.367A>G (p.Met123Val) rs149684063
NM_207352.3(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NR_001566.1(TERC):n.228G>A rs141686314
Single allele
UGT1A1*6 rs4148323
m.1291T>C rs267606620
m.3308T>C rs28358582
m.961T>G rs3888511

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