ClinVar Miner

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

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

Total variants with conflicting interpretations: 484

HGVS dbSNP
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
NC_012920.1:m.14598T>C rs1057518882
NC_012920.1:m.15098A>G rs527236172
NC_012920.1:m.15459C>T rs527236186
NC_012920.1:m.15511T>C rs527236188
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196
NM_000077.4(CDKN2A):c.67G>C (p.Gly23Arg)
NM_000080.4(CHRNE):c.803-6_803-3del rs762704832
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000138.4(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000143.3(FH):c.1048C>T (p.Arg350Trp) rs755436052
NM_000143.3(FH):c.1127A>C (p.Gln376Pro) rs200796606
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.61-7486G>T
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000455.4(STK11):c.1060T>C (p.Phe354Leu) rs1057520018
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) rs121909552
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000505.3(F12):c.1681-1G>A rs199988476
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.941-4G>A rs116405216
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) rs1060339
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_000747.3(CHRNB1):c.1218-9_1218-7del rs781689096
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001042723.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001126049.1(KLLN):c.-794_-783del rs587781340
NM_001126106.2(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001231.5(CASQ1):c.1039G>T (p.Gly347Ter)
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.29042-2A>C rs6716782
NM_001267550.2(TTN):c.31763-1G>A rs202234172
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001349253.2(SCN11A):c.4628G>A (p.Cys1543Tyr)
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser) rs368915509
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.4(COL6A2):c.1970-9G>A rs747900252
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324
NM_002474.3(MYH11):c.5787-4707_5787-4706insCA
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.4(SPTA1):c.6531-12C>T rs28525570
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003738.5(PTCH2):c.1170_1171CT[1] (p.Phe390_Ser391insTer) rs56126236
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) rs119486097
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004403.3(GSDME):c.1274_1276ATG[1] (p.Asp426del) rs374353052
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849
NM_004977.3(KCNC3):c.1737_1745ACCCCCGCC[1] (p.Pro583_Pro585del)
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) rs387906816
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006514.3(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006796.2(AFG3L2):c.2167G>A (p.Val723Met) rs139469785
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_007052.5(NOX1):c.721C>T (p.Arg241Cys) rs142303829
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln) rs199800166
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_015074.3(KIF1B):c.3649C>T (p.Pro1217Ser) rs121908163
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) rs200561798
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) rs139548132
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) rs2870984
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020312.4(COQ9):c.184C>T (p.His62Tyr) rs757251412
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364
NM_021150.4(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) rs754081544
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) rs140506267
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_023036.6(DNAI2):c.1723-1G>T rs201909971
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
NM_024996.5(GFM1):c.689+908G>A rs751069628
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032682.6(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) rs372710475
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240
NM_144573.4(NEXN):c.1946_1948GAG[1] (p.Gly650del) rs397517853
NM_144612.6(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) rs201835496
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) rs141893504
NM_153033.4(KCTD7):c.456G>A (p.Val152=) rs796052686
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.203G>A (p.Arg68Gln) rs138362632
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_198056.2(SCN5A):c.5770G>A (p.Ala1924Thr) rs137854603
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_212472.2(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675
Single allele rs1555293215
UGT1A1*6 rs4148323

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