ClinVar Miner

List of variants reported as pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 646
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp) rs397508276 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter) rs72659361 0.00009
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs) rs1555288494 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) rs137854445 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter) rs753238253 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter) rs541008862 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys) rs747068278 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter) rs80358843 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter) rs63751221 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000500.9(CYP21A2):c.1096C>T (p.His366Tyr) rs1330554738 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter) rs1574066341 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter) rs768498039 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_144997.7(FLCN):c.764A>C (p.His255Pro) rs879255665 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000038.6(APC):c.1001T>A (p.Leu334Ter) rs1762812907
NM_000038.6(APC):c.1085del (p.Gly362fs) rs1762829672
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) rs387906237
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) rs387906238
NM_000038.6(APC):c.1343dup (p.Ala449fs) rs1554080695
NM_000038.6(APC):c.1393dup (p.Ala465fs) rs1763189862
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.6(APC):c.1620dup (p.Gln541fs) rs1131691555
NM_000038.6(APC):c.1897G>T (p.Glu633Ter) rs1764730705
NM_000038.6(APC):c.2006T>G (p.Leu669Ter) rs1765088338
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2555T>A (p.Leu852Ter) rs1405022793
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3214del (p.Ser1072fs) rs1765366028
NM_000038.6(APC):c.3358G>T (p.Gly1120Ter) rs1765404132
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter) rs1321583762
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423G>T (p.Arg141Ser) rs863224458
NM_000038.6(APC):c.481C>T (p.Gln161Ter) rs876658325
NM_000038.6(APC):c.4901del (p.Pro1634fs) rs1057518901
NM_000044.6(AR):c.1460del (p.Pro487fs) rs1929773822
NM_000044.6(AR):c.1462C>T (p.Gln488Ter) rs1929774367
NM_000044.6(AR):c.1822C>T (p.Arg608Ter) rs886041128
NM_000044.6(AR):c.1833T>A (p.Asn611Lys) rs2075964906
NM_000044.6(AR):c.202C>T (p.Gln68Ter) rs1929664860
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2299C>G (p.Pro767Ala) rs1555996867
NM_000044.6(AR):c.2301del (p.Asp768fs) rs886041131
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs) rs2072423291
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter) rs397507624
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter) rs1566226803
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter) rs886040480
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.4(BRCA2):c.480_489del (p.Gly162fs) rs2072346061
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.537dup (p.Ile180fs) rs1566219199
NM_000059.4(BRCA2):c.538_539del (p.Ile180fs) rs80359510
NM_000059.4(BRCA2):c.5425del (p.Cys1809fs) rs2072529051
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs) rs397507803
NM_000059.4(BRCA2):c.5790dup (p.Gln1931fs) rs2072538550
NM_000059.4(BRCA2):c.5823del (p.Val1942fs) rs80359540
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter) rs80358842
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6318del (p.Pro2107fs) rs2072552105
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs) rs397507849
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs) rs80359591
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs) rs398122557
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs) rs80359634
NM_000059.4(BRCA2):c.743del (p.Ala248fs) rs886040708
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.778G>T (p.Glu260Ter) rs2072387354
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8195_8202del (p.Leu2732fs) rs886040749
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8513T>G (p.Leu2838Ter) rs886040779
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8796del (p.His2932fs) rs766145981
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter) rs864622200
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter) rs397508037
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9302del (p.Leu3101fs) rs2073021354
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9408del (p.Thr3137fs) rs80359761
NM_000059.4(BRCA2):c.9507del (p.Ile3169fs) rs80359767
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs) rs80359771
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs) rs1566261027
NM_000059.4:c.476_516del
NM_000061.3(BTK):c.1381dup (p.Tyr461fs) rs1926476996
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.3(BTK):c.1699G>T (p.Glu567Ter) rs1926380816
NM_000061.3(BTK):c.1922G>A (p.Arg641His) rs1926220192
NM_000061.3(BTK):c.352del (p.Glu118fs) rs1926975943
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys) rs8179178
NM_000088.4(COL1A1):c.614dup (p.Gly206fs) rs72667033
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val) rs1792257312
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3287G>C (p.Gly1096Ala) rs72659337
NM_000090.4(COL3A1):c.2716G>A (p.Gly906Ser) rs1688530172
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn) rs2055169002
NM_000127.3(EXT1):c.416del (p.Glu139fs) rs1817880834
NM_000127.3(EXT1):c.719del (p.Asp240fs) rs1817872593
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val) rs2043240309
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg) rs1885895082
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs) rs1669391378
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs) rs63750940
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs) rs1384780420
NM_000179.3(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.843dup (p.Ala282fs) rs2082749588
NM_000251.3(MSH2):c.1066_1070del (p.Ile356fs) rs1673082068
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1363_1364del (p.Glu455fs) rs1675074248
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs) rs63750161
NM_000251.3(MSH2):c.1587del (p.Glu530fs) rs63750845
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2680_2681dup (p.Met894fs) rs1667578908
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.347_350del (p.Asp116fs) rs63750501
NM_000251.3(MSH2):c.680_683del (p.Arg227fs) rs587782537
NM_000307.5(POU3F4):c.530C>A (p.Ser177Ter) rs770657036
NM_000307.5(POU3F4):c.666_667del (p.Tyr223fs) rs1925845195
NM_000307.5(POU3F4):c.704del (p.Phe235fs) rs1925845638
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000346.4(SOX9):c.1196_1199del (p.Thr399fs) rs1908204839
NM_000346.4(SOX9):c.436_437dup (p.Leu146_Asn147insTer) rs1908139397
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs) rs1667066366
NM_000371.4(TTR):c.194C>A (p.Ala65Asp) rs730881169
NM_000451.4(SHOX):c.605del (p.Met202fs) rs2052845246
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) rs864622488
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2611dup (p.Leu871fs) rs1792099971
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter) rs1779066482
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs) rs1816889095
NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=) rs1776234662
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) rs574370139
NM_000500.9(CYP21A2):c.1357C>T (p.Leu453=) rs1776309065
NM_000500.9(CYP21A2):c.515T>A (p.Ile172Asn) rs1776095671
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs) rs1776193326
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.92C>A (p.Pro31Gln) rs9378251
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) rs1776217797
NM_000500.9(CYP21A2):c.955C>G (p.Gln319Glu) rs7755898
NM_000501.4(ELN):c.956_957dup (p.Ala320fs) rs1794472287
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.30dup (p.Ala11fs) rs34548294
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del) rs1847521496
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) rs1567541975
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.2134C>T (p.His712Tyr) rs1650343681
NM_000760.4(CSF3R):c.2221C>T (p.Gln741Ter) rs1650335100
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2260C>T (p.Gln754Ter) rs1650330817
NM_000781.3(CYP11A1):c.440G>A (p.Trp147Ter) rs2060627551
NM_000834.5(GRIN2B):c.996del (p.Asn333fs) rs1863518855
NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter) rs1564360451
NM_001015880.2(PAPSS2):c.1053G>A (p.Trp351Ter) rs1853674376
NM_001015880.2(PAPSS2):c.1078del (p.His360fs) rs1853674954
NM_001015880.2(PAPSS2):c.1476T>A (p.Tyr492Ter) rs185351326
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter) rs2040265772
NM_001080517.3(SETD5):c.2685_2697del (p.Thr896fs) rs2044345693
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.548C>G (p.Ser183Ter) rs2082083331
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001122630.2(CDKN1C):c.400_401insA (p.Ala134fs) rs1848955968
NM_001122630.2(CDKN1C):c.401_402del (p.Ala134fs) rs1848955612
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_001145358.2(SIN3A):c.1122dup (p.Glu375fs) rs2073604192
NM_001145358.2(SIN3A):c.1609C>T (p.Arg537Ter) rs757034687
NM_001172509.2(SATB2):c.1148del (p.Ala383fs) rs1688726478
NM_001172509.2(SATB2):c.652A>T (p.Lys218Ter) rs1689357139
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) rs1835287406
NM_001197104.2(KMT2A):c.2115dup (p.Glu706Ter) rs1949975069
NM_001197104.2(KMT2A):c.5260A>T (p.Asn1754Tyr) rs1950371099
NM_001197104.2(KMT2A):c.7007dup (p.Gln2337fs) rs1950523116
NM_001197104.2(KMT2A):c.7071del (p.Ser2358fs) rs1591281225
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001256545.2(MEGF10):c.2403_2404del (p.Ile801fs) rs1765814665
NM_001323289.2(CDKL5):c.1008del (p.Gln336fs) rs1926255341
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001349338.3(FOXP1):c.447dup (p.Gln150fs) rs2050059649
NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs) rs2063932925
NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter) rs777274761
NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer) rs1785639514
NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter) rs1788331355
NM_001368894.2(PAX6):c.330_331dup (p.Ile111fs) rs1953909830
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter) rs1131692300
NM_001368894.2(PAX6):c.463_464dup (p.Met156fs) rs1953535914
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001370100.5(ZMYND11):c.466C>T (p.Gln156Ter) rs1950080058
NM_001370259.2(MEN1):c.1023G>A (p.Trp341Ter) rs1941717384
NM_001370259.2(MEN1):c.1183C>T (p.Gln395Ter) rs1941661404
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) rs104894264
NM_001370259.2(MEN1):c.1273G>T (p.Glu425Ter) rs1941613848
NM_001370259.2(MEN1):c.1546_1547dup (p.Lys517fs) rs1941527353
NM_001370259.2(MEN1):c.1548_1549del (p.Lys517fs) rs1941526116
NM_001370259.2(MEN1):c.1548del (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.186dup (p.Phe63fs) rs1942006700
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter) rs1942027113
NM_001370259.2(MEN1):c.20A>C (p.Gln7Pro) rs1942026974
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.312_315del (p.Leu105fs) rs1592658517
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter) rs778921501
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) rs1592647398
NM_001370259.2(MEN1):c.823del (p.Arg275fs) rs1555165360
NM_001370259.2(MEN1):c.959C>G (p.Pro320Arg) rs1114167469
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_001372044.2(SHANK3):c.3209del (p.Gly1070fs) rs2083278717
NM_001374828.1(ARID1B):c.2086C>T (p.Gln696Ter) rs1788932771
NM_001374828.1(ARID1B):c.2618_2619insCTCAACCC (p.Gln874fs) rs1788661091
NM_001374828.1(ARID1B):c.4835dup (p.Tyr1613fs) rs1794071513
NM_001374828.1(ARID1B):c.5047del (p.Gln1683fs) rs1794099468
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001451.3(FOXF1):c.75del (p.Met26fs) rs1969546584
NM_001530.4(HIF1A):c.293G>A (p.Gly98Asp) rs2044427387
NM_001754.5(RUNX1):c.270dup (p.Arg91fs) rs2057999400
NM_001844.5(COL2A1):c.1266+1G>T
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
NM_001844.5(COL2A1):c.635dup (p.Gly213fs) rs1939938528
NM_001849.4(COL6A2):c.1688dup (p.Gly564fs) rs1568938325
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001972.4(ELANE):c.164G>C (p.Cys55Ser) rs2035617210
NM_001972.4(ELANE):c.2T>C (p.Met1Thr) rs2035606369
NM_002181.4(IHH):c.569T>C (p.Val190Ala) rs121917857
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) rs1580817729
NM_002296.4(LBR):c.1127C>G (p.Pro376Arg)
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) rs1555361385
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003401.5(XRCC4):c.859del (p.Ala287fs) rs1233593843
NM_003467.3(CXCR4):c.952dup (p.Thr318fs) rs1684842255
NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs) rs1943078129
NM_003482.4(KMT2D):c.3704del (p.Gly1235fs) rs1364500207
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003764.4(STX11):c.369_376delinsTGG (p.Val124fs) rs483352901
NM_003924.4(PHOX2B):c.779_780insGGCGGCGGCGGCAGC (p.Ala256_Ala260dup) rs1733874227
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004329.3(BMPR1A):c.540C>A (p.Cys180Ter) rs1843501165
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter) rs878854676
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004364.5(CEBPA):c.137del (p.Pro46fs) rs1967197402
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.5(CEBPA):c.33_67delinsTTCCTAACCCT (p.Arg12_Pro23delinsSerTer) rs1967202251
NM_004364.5(CEBPA):c.367G>T (p.Gly123Ter) rs1967187396
NM_004364.5(CEBPA):c.436dup (p.Leu146fs) rs1967184344
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.911_1038dup (p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer) rs1967157292
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter) rs1967162539
NM_004364.5(CEBPA):c.933_934insTTC (p.Gln311_Gln312insPhe) rs1967162464
NM_004380.3(CREBBP):c.6033dup (p.Val2012fs) rs2051832768
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004820.5(CYP7B1):c.1033C>T (p.Gln345Ter) rs1805413419
NM_004959.5(NR5A1):c.97T>A (p.Cys33Ser) rs1832496590
NM_005215.4(DCC):c.1466_1476del (p.Val489fs) rs2055152944
NM_005491.5(MAMLD1):c.1033del (p.Ser345fs) rs2036384866
NM_005787.6(ALG3):c.2T>C (p.Met1Thr) rs773271124
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) rs281875370
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006579.3(EBP):c.469G>A (p.Gly157Ser) rs2061782205
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1772del (p.Ile591fs) rs80357901
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs) rs80357522
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) rs80357234
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs) rs80357738
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter) rs80356936
NM_007294.4(BRCA1):c.3048_3052del (p.Asn1016fs) rs80357856
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) rs80357856
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs) rs886040150
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer) rs80357571
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) rs80357687
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs) rs730881440
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs) rs397509111
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.406del (p.Arg136fs) rs80357709
NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs) rs886040221
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.5034del (p.Asn1678_Leu1679insTer) rs2052173011
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.4(BRCA1):c.5266_5267dup (p.Gln1756fs) rs2051500205
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.930del (p.Gln310fs) rs80357689
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_012414.4(RAB3GAP2):c.1743_1746del (p.Leu581fs) rs1658577400
NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs) rs1659134672
NM_013275.6(ANKRD11):c.6760G>T (p.Gly2254Ter) rs1003478010
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter) rs1554595930
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014822.4(SEC24D):c.788_789del (p.Ser263fs) rs1730078066
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_016122.3(CEP83):c.346G>T (p.Glu116Ter) rs2063356920
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_017635.5(KMT5B):c.725del (p.Leu242fs) rs1555028154
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_017780.4(CHD7):c.6175G>T (p.Glu2059Ter) rs1057520712
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_020458.4(TTC7A):c.76dup (p.Trp26fs) rs1670387998
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020975.6(RET):c.1098G>C (p.Glu366Asp) rs1362164894
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.440_442del (p.Phe147del) rs1837660523
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_024339.5(THOC6):c.893del (p.Pro298fs) rs2072828521
NM_024344.1:c.2362_2363delinsTCATCT
NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter) rs1677757408
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) rs1680684866
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_133433.4(NIPBL):c.4291C>T (p.Gln1431Ter) rs1747653910
NM_133433.4(NIPBL):c.4561del (p.Ile1521fs) rs754929654
NM_133433.4(NIPBL):c.6576dup (p.Ile2193fs) rs1752962580
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter) rs879255672
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1301_1302del rs1567808098
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.241_242del (p.Met81fs) rs1057518147
NM_144997.7(FLCN):c.889_890del (p.Glu297fs) rs1597592246
NM_144997.7(FLCN):c.927dup (p.Ala310fs) rs879255669
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) rs587781952
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152641.4(ARID2):c.300del (p.Lys99_Tyr100insTer) rs1942707093
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181486.4(TBX5):c.1081C>T (p.Gln361Ter) rs1868888758
NM_182943.3(PLOD2):c.1764G>T (p.Trp588Cys) rs1936187674
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs) rs1825528981
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter) rs2064908936
NM_199242.3(UNC13D):c.762del (p.Cys255fs) rs1381855537
NM_205768.3(ZBTB18):c.246dup (p.Ala83fs) rs1698403157
NM_205768.3(ZBTB18):c.658dup (p.Thr220fs) rs1698413680

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