ClinVar Miner

List of variants reported as pathogenic by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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ClinVar version:
Total variants: 499
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HGVS dbSNP gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) rs28936701 0.00004
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter) rs373278668 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_016630.7(SPG21):c.141A>G (p.Ile47Met) rs776641719 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys) rs761583890 0.00001
NM_000215.4(JAK3):c.308G>A (p.Arg103His) rs774202259 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter) rs767646489 0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001038.6(SCNN1A):c.875+1G>A rs142439390 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter) rs1391374865 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002470.4(MYH3):c.2170C>T (p.Arg724Ter) rs763239874 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218 0.00001
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) rs1484455290 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004357.5(CD151):c.493C>T (p.Arg165Ter) rs759213580 0.00001
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter) rs749224036 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014625.4(NPHS2):c.385C>T (p.Gln129Ter) rs755972674 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) rs748555538 0.00001
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter) rs757674263 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_144639.3(UROC1):c.855G>A (p.Trp285Ter) rs781621925 0.00001
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) rs753873681 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) rs1005542482 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_201548.5(CERKL):c.238+1G>A rs1276597208 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000057.4(BLM):c.175_176del (p.Val59fs) rs2151146787
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.82C>T (p.Arg28Cys) rs1927168815
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000074.3(CD40LG):c.347-2A>G rs1569377237
NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter) rs779809359
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) rs2141079375
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000129.4(F13A1):c.798+2T>C rs1757581465
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000147.5(FUCA1):c.1123del (p.Trp375fs)
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000156.6(GAMT):c.403G>C (p.Asp135His)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.820G>A (p.Glu274Lys)
NM_000159.4(GCDH):c.1208A>G (p.His403Arg)
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000270.4(PNP):c.12-1G>C rs2139335095
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000392.5(ABCC2):c.3403del (p.Val1135fs) rs2038788369
NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter) rs2114593621
NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)
NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000448.3(RAG1):c.555del (p.Lys186fs) rs786205615
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3293G>C (p.Trp1098Ser)
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000504.4(F10):c.513del (p.Cys172fs) rs2138548669
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000551.4(VHL):c.363del (p.Asp121fs) rs2125128271
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_000925.4(PDHB):c.1A>G (p.Met1Val)
NM_001009944.3(PKD1):c.10219del (p.Ser3407fs) rs2151728391
NM_001009944.3(PKD1):c.10358dup (p.Ser3454fs) rs2151726623
NM_001009944.3(PKD1):c.6282G>A (p.Trp2094Ter) rs2151788870
NM_001012759.3(CTU2):c.873G>A (p.Thr291=) rs769481947
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001042424.3(NSD2):c.2518+1G>A
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001046.3(SLC12A2):c.2617-2A>G
NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter) rs1645371113
NM_001079.4(ZAP70):c.493del (p.His165fs)
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs) rs2127879625
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001083116.3(PRF1):c.880del (p.Gln294fs)
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)
NM_001085487.3(MYSM1):c.1168G>T (p.Glu390Ter) rs1557518298
NM_001085487.3(MYSM1):c.412C>T (p.Arg138Ter)
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter) rs1567760022
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
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.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001164496.2(CFAP44):c.1387G>T (p.Glu463Ter) rs866096259
NM_001164508.2(NEB):c.1015del (p.Ala339fs) rs2150017687
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001199397.3(NEK1):c.1691T>N (p.Met564Xaa)
NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter) rs2134089305
NM_001206999.2(CIT):c.1111+1G>A rs879255522
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter) rs1183090232
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) rs1757862455
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp) rs1564035967
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001353214.3(DYM):c.2025+1G>A rs786205511
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)
NM_001365536.1(SCN9A):c.3536G>A (p.Trp1179Ter)
NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter) rs886041200
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001371596.2(MFSD8):c.198+2T>C rs2148943607
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter) rs786205575
NM_001378454.1(ALMS1):c.11873-2A>T rs786205527
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter) rs372127610
NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)
NM_001384125.1(BLTP1):c.11514-1G>A rs2150047294
NM_001553.3(IGFBP7):c.830-1G>A rs866994863
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_001987.5(ETV6):c.1254G>T (p.Arg418Ser)
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_002074.5(GNB1):c.229G>T (p.Gly77Cys) rs758432471
NM_002076.4(GNS):c.732C>A (p.Tyr244Ter) rs2136247574
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter) rs397514661
NM_002354.3(EPCAM):c.499dup (p.Gln167fs) rs606231204
NM_002437.5(MPV17):c.279+1G>T rs1572543564
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser) rs2142400070
NM_002474.3(MYH11):c.1033+1G>A rs112534511
NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter) rs879253890
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_003073.5(SMARCB1):c.1118+2T>C
NM_003118.4(SPARC):c.57+1G>C
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003737.4(DCHS1):c.2225T>A (p.Leu742Ter) rs2134633746
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004035.7(ACOX1):c.1728+1G>A
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004434.3(EML1):c.1567C>T (p.Arg523Ter) rs1555404109
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004646.4(NPHS1):c.1757+1G>A rs1555762591
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter) rs1796279189
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004750.5(CRLF1):c.397+1G>A rs137853932
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_005045.4(RELN):c.3711+2T>C
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005422.4(TECTA):c.4690-1G>A
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092
NM_005529.7(HSPG2):c.3518del (p.Gly1173fs) rs2152747090
NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter) rs2102196403
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006208.3(ENPP1):c.2230+1G>A
NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)
NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs) rs1676689811
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006439.5(MAB21L2):c.840C>G (p.Tyr280Ter)
NM_006757.4(TNNT3):c.723-2A>G rs1855785074
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007348.4(ATF6):c.949C>T (p.Arg317Ter) rs146640460
NM_012233.3(RAB3GAP1):c.2710-1G>A
NM_012293.3(PXDN):c.3609-1G>C
NM_012452.3(TNFRSF13B):c.61+1G>T rs1016142312
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014168.4(METTL5):c.224+1G>A
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter) rs886037841
NM_015161.3(ARL6IP1):c.112C>T (p.Arg38Ter)
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter) rs786205487
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter) rs549138385
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter) rs895782232
NM_016343.4(CENPF):c.1323+1G>A rs1657782821
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter) rs760124743
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.5064T>N (p.Thr1688=)
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018249.6(CDK5RAP2):c.140T>N (p.Val47Xaa)
NM_018249.6(CDK5RAP2):c.3851T>A (p.Leu1284Ter)
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018699.4(PRDM5):c.93+2T>C rs1579259095
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_019032.6(ADAMTSL4):c.1436del (p.Gly479fs) rs1672096009
NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr) rs1444559235
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) rs2142234775
NM_019616.4(F7):c.394G>T (p.Glu132Ter) rs146795869
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024715.4(TXNDC15):c.103+1G>A rs886039792
NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter) rs1956235509
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) rs1057517688
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter) rs1031314447
NM_054012.4(ASS1):c.364-2A>G rs774231051
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter) rs1566078009
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) rs587783914
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs) rs2128143028
NM_144643.4(SCLT1):c.290+2T>C rs587777504
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152383.5(DIS3L2):c.1810C>T (p.Gln604Ter) rs1695684357
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.292-1G>A rs1057520768
NM_153676.4(USH1C):c.2380+1G>C rs1060499916
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys) rs59931416
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer) rs2151732018
NM_178172.6(GPIHBP1):c.323C>G (p.Thr108Arg) rs752728823
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
NM_183065.4(TMEM107):c.256+1G>A rs1131692180
NM_183235.3(RAB27A):c.467+3_467+6del
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter) rs998162536
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_206933.4(USH2A):c.486-1G>C rs876657730
XM_011517384.2:c.1149G>A

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