ClinVar Miner

List of variants reported as pathogenic by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199 0.00001
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1958+3A>G rs879254032
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1447-2del rs1556002457
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000551.4(VHL):c.193T>C (p.Ser65Pro) rs869025616
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.4(VHL):c.585_586del (p.Lys196fs) rs1553620362
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1642-1G>A rs1555613185
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2002-1G>A rs1555613743
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2252-2A>C rs1131691105
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.246_247del (p.Gln83fs) rs771115661
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter) rs876660428
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg) rs1555619001
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.4783del (p.Gln1595fs) rs1555619404
NM_001042492.3(NF1):c.4835+1G>A rs1085307819
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter) rs1135402872
NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs) rs1555533636
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs) rs1475358670
NM_001042492.3(NF1):c.5812+2T>C rs1555533887
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6642+1G>T rs1060500345
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6704+2T>G rs1555534928
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter) rs567988442
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.888+1G>A rs1135402799
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) rs267608523
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) rs1555164707
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001372066.1(TFAP2A):c.716G>C (p.Arg239Pro) rs151344525
NM_001372066.1(TFAP2A):c.766C>G (p.Arg256Gly) rs151344528
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001379610.1(SPINK1):c.87+1G>A rs1554089895
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) rs864309491
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) rs1555167783
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.336dup (p.Asp113Ter) rs1555187583
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) rs121918315
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022455.5(NSD1):c.2314del (p.Ala772fs) rs1554189482
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) rs1553593928
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745

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