ClinVar Miner

List of variants reported as pathogenic by Kariminejad - Najmabadi Pathology & Genetics Center

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ClinVar version:
Total variants: 401
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00040
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00032
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00007
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00005
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00005
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00004
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) rs863224960 0.00003
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00003
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00003
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00003
NM_001195518.2(MICU1):c.52C>T (p.Arg18Ter) rs746453954 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter) rs868019991 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter) rs373701249 0.00002
NM_001163435.3(TBCK):c.1897+1G>A rs374319146 0.00002
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.6629del (p.Gln2210fs) rs2085556498 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958 0.00001
NM_000070.3(CAPN3):c.1536+1G>T rs1301292668 0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439 0.00001
NM_000070.3(CAPN3):c.946-2A>G rs1595826673 0.00001
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) rs1586485406 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 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.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001083961.2(WDR62):c.1319G>A (p.Trp440Ter) rs1417437683 0.00001
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met) rs398123802 0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter) rs763057505 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) rs199899494 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) rs121434294 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_017882.3(CLN6):c.396dup (p.Val133fs) rs2141139300 0.00001
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter) rs767558518 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter) rs903257336 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) rs587776943 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) rs63749891
NM_000023.4(SGCA):c.320_330del (p.Ala107fs) rs2144495228
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000069.3(CACNA1S):c.3724A>G (p.Arg1242Gly) rs2102562245
NM_000070.3(CAPN3):c.1292dup (p.Ser432fs) rs1555421856
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu) rs863224956
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1894A>T (p.Lys632Ter) rs2548287991
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu) rs2548255674
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter) rs2548262153
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000094.4(COL7A1):c.3117_3120del (p.Glu1039fs) rs2107755031
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) rs2044195570
NM_000095.3(COMP):c.1403G>T (p.Cys468Phe) rs137852651
NM_000135.4(FANCA):c.1150_1163del (p.Val384fs) rs2143529990
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) rs1369786965
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.46C>G (p.His16Asp) rs2147944895
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000228.3(LAMB3):c.1289-2_1296del rs2102424525
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000232.5(SGCB):c.185del (p.Gly62fs) rs2109375847
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.5567del (p.Arg1856fs) rs2135733393
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000337.6(SGCD):c.568G>T (p.Glu190Ter) rs1412814368
NM_000338.3(SLC12A1):c.2584A>T (p.Lys862Ter) rs1318795841
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) rs1057516319
NM_000391.4(TPP1):c.687+2T>G rs1057516945
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000426.4(LAMA2):c.4318C>T (p.Gln1440Ter) rs2114568250
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.8625del (p.Ala2876fs) rs749162150
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter) rs750328754
NM_000426.4(LAMA2):c.9069_9075dup (p.His3026fs) rs2114939208
NM_000426.4(LAMA2):c.9212-1G>A rs398123391
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293
NM_000540.3(RYR1):c.9851G>A (p.Trp3284Ter) rs2145682223
NM_000548.5(TSC2):c.2160del (p.Val721fs) rs2151317705
NM_000642.3(AGL):c.1587del (p.Ser530fs) rs2101136881
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_001042492.3(NF1):c.3297del (p.Lys1099fs) rs2151433875
NM_001042492.3(NF1):c.3816_3817del (p.Gln1272fs) rs2151437959
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001130987.2(DYSF):c.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.345+1G>A rs2152715844
NM_001130987.2(DYSF):c.3630dup (p.Asn1211fs) rs2152855822
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter) rs1558613592
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001130987.2(DYSF):c.5785-824C>T rs1285082850
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001142800.2(EYS):c.2023+1G>A rs980430860
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter) rs538329212
NM_001195553.2(DCX):c.240dup (p.Asp81Ter) rs2147276330
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) rs1603251001
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001368809.2(AMPD2):c.532-1G>T rs2101158688
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs) rs751035912
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001378183.1(PIEZO2):c.8109T>A (p.Tyr2703Ter) rs2143421042
NM_001378454.1(ALMS1):c.6711dup (p.Ser2238fs) rs2103791192
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.407G>A (p.Arg136Gln) rs863225022
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001848.3(COL6A1):c.1003-1G>C rs886043330
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs) rs1377090546
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003383.5(VLDLR):c.2466G>A (p.Trp822Ter) rs2130810638
NM_003482.4(KMT2D):c.9790C>T (p.Gln3264Ter) rs1009925927
NM_003560.4(PLA2G6):c.1893G>A (p.Trp631Ter) rs2145683127
NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) rs1571346132
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.1083_1090del (p.Leu362fs) rs2146833477
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.1975G>T (p.Glu659Ter) rs748567438
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter) rs398123872
NM_004006.3(DMD):c.2353C>T (p.Gln785Ter) rs2148691015
NM_004006.3(DMD):c.2479G>T (p.Glu827Ter) rs794727323
NM_004006.3(DMD):c.2584G>T (p.Glu862Ter) rs2042975774
NM_004006.3(DMD):c.2698A>T (p.Lys900Ter) rs2148583763
NM_004006.3(DMD):c.2804-1del rs1557374667
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter) rs398123912
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3314dup (p.Asn1106fs) rs2148419527
NM_004006.3(DMD):c.4697del (p.Leu1566fs) rs2147472674
NM_004006.3(DMD):c.4839G>A (p.Trp1613Ter)
NM_004006.3(DMD):c.5503C>T (p.Gln1835Ter) rs1225638867
NM_004006.3(DMD):c.6576G>A (p.Trp2192Ter) rs764789298
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.8601dup (p.Thr2868fs) rs2149257286
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter) rs2065150560
NM_004006.3(DMD):c.93+1G>A rs886042604
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004722.4(AP4M1):c.53_54del (p.Lys18fs) rs2116614049
NM_004744.5(LRAT):c.157_159dup (p.Val53dup) rs2111032416
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005186.4(CAPN1):c.853C>T (p.Arg285Ter) rs1033093801
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.279C>A (p.Cys93Ter) rs1575482936
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006158.5(NEFL):c.803T>C (p.Leu268Pro) rs62636502
NM_006493.4(CLN5):c.174-1G>A rs2154034622
NM_006612.6(KIF1C):c.1996G>T (p.Glu666Ter) rs2143382149
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs) rs2125081805
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) rs1658342879
NM_007129.5(ZIC2):c.1182_1183dup (p.Cys395fs) rs2152163576
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007289.4(MME):c.1066A>T (p.Lys356Ter) rs2473073611
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.7134T>G (p.Tyr2378Ter) rs762475019
NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter) rs527679524
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015295.3(SMCHD1):c.1786T>G (p.Trp596Gly) rs2143214372
NM_015295.3(SMCHD1):c.2377C>T (p.Gln793Ter) rs2143367390
NM_015331.3(NCSTN):c.1635C>G (p.Tyr545Ter) rs2101909450
NM_015559.3(SETBP1):c.2665C>T (p.Arg889Ter) rs1599368734
NM_016239.4(MYO15A):c.4142+1G>T rs2142299813
NM_016239.4(MYO15A):c.9355A>T (p.Lys3119Ter) rs2142395492
NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter) rs1475539242
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018136.5(ASPM):c.1592_1595del (p.Val531fs) rs2125113873
NM_018136.5(ASPM):c.1694del (p.Ser565fs) rs2125113775
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.6047_6053del (p.His2015_Leu2016insTer) rs2125095360
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) rs587777057
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) rs1754094644
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.3176del (p.Ile1059fs) rs863225184
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6520_6521del (p.Tyr2174fs) rs2140920947
NM_025137.4(SPG11):c.6811_6812del (p.Leu2271fs) rs1268815918
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs) rs2514545949
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter) rs2495701378
NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter) rs2140156819
NM_052988.5(CDK10):c.608+1G>A rs771066826
NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu) rs869320701
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu) rs759982570
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.8642+1G>T rs1485161784
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_194248.3(OTOF):c.1981dup (p.Asp661fs) rs2148055230
NM_198576.4(AGRN):c.1323G>A (p.Trp441Ter) rs1557702487
NM_201384.3(PLEC):c.5725C>T (p.Gln1909Ter)
NM_206933.4(USH2A):c.13792C>T (p.Gln4598Ter) rs1657911759
NM_206933.4(USH2A):c.2944dup (p.Cys982fs) rs2102522151
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_207346.3(TSEN54):c.1252+1G>T rs2147013931
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213655.5(WNK1):c.3330C>A (p.Tyr1110Ter) rs1951900495
Single allele

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