ClinVar Miner

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

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ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter) rs764164884 0.00004
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu) rs397514648 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241 0.00002
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg) rs373676533 0.00002
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp) rs371374104 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) rs1659954399 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001371596.2(MFSD8):c.1351-1G>A rs565253666 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NM_002615.7(SERPINF1):c.205C>T (p.Arg69Ter) rs765137033 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_004614.5(TK2):c.311G>A (p.Arg104His) rs770318536 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_007347.5(AP4E1):c.910C>T (p.Arg304Ter) rs569567659 0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) rs372548739 0.00001
NM_015665.6(AAAS):c.463C>T (p.Arg155Cys) rs777711720 0.00001
NM_016239.4(MYO15A):c.3956C>G (p.Ser1319Cys) rs767354620 0.00001
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) rs374183624 0.00001
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp) rs375805896 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu) rs1173430388 0.00001
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala) rs1249694833 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) rs778907433 0.00001
NM_025137.4(SPG11):c.5510T>G (p.Leu1837Ter) rs2082710048 0.00001
NM_052867.4(NALCN):c.1434+1G>A rs2041614157 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) rs2071345821
NM_000018.4(ACADVL):c.869del (p.Gly290fs) rs886044671
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424
NM_000023.4(SGCA):c.113A>G (p.His38Arg) rs2144493345
NM_000023.4(SGCA):c.184T>C (p.Tyr62His) rs2144494074
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu) rs372046855
NM_000033.4(ABCD1):c.1093_1103del (p.Val365fs) rs2148395370
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000051.4(ATM):c.4572del (p.Ile1525fs) rs2135801606
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs) rs2136611559
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000069.3(CACNA1S):c.324C>G (p.Tyr108Ter) rs200487405
NM_000070.3(CAPN3):c.1009T>C (p.Ser337Pro) rs2141176978
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1447G>A (p.Ala483Thr) rs2141199638
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile) rs751104396
NM_000070.3(CAPN3):c.1633del (p.Gln545fs) rs2141203052
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys) rs767739787
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys) rs1432632972
NM_000070.3(CAPN3):c.689del (p.Asp230fs) rs2141167797
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro) rs2053485355
NM_000070.3(CAPN3):c.795_800del (p.Ile266_Asp267del) rs869312852
NM_000071.3(CBS):c.359_368del (p.Asp120fs) rs2146394968
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.164T>A (p.Val55Asp) rs2151098864
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.917G>C (p.Arg306Thr) rs2151096983
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_000082.4(ERCC8):c.275+1G>T rs2112522829
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) rs1580023012
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp) rs1554395833
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002
NM_000094.4(COL7A1):c.6464del (p.Pro2155fs) rs2107667545
NM_000127.3(EXT1):c.1150A>T (p.Arg384Ter) rs2129786203
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000161.3(GCH1):c.263G>T (p.Arg88Leu) rs2140127157
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly) rs1574603062
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) rs1574624062
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter) rs777045339
NM_000228.3(LAMB3):c.2582C>A (p.Ser861Ter) rs145464247
NM_000232.5(SGCB):c.1A>T (p.Met1Leu) rs398123262
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000255.4(MMUT):c.1436dup (p.Asp480fs) rs2127417136
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr) rs755934966
NM_000260.4(MYO7A):c.75_82del (p.Ala26fs) rs2135627450
NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs) rs2143113297
NM_000271.5(NPC1):c.2985C>G (p.Phe995Leu) rs2145366579
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) rs536742386
NM_000288.4(PEX7):c.209T>G (p.Leu70Trp) rs2115131765
NM_000307.5(POU3F4):c.929C>A (p.Ser310Ter) rs1602641906
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000310.4(PPT1):c.536+1G>A rs386833651
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) rs2132044757
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.938A>C (p.His313Pro) rs1375943362
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000337.6(SGCD):c.422dup (p.Thr143fs) rs2113389287
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del) rs2101078317
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000370.3(TTPA):c.798del (p.Glu267fs) rs2129734219
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000377.3(WAS):c.1295dup (p.Ala433fs) rs2147266958
NM_000414.4(HSD17B4):c.623-1G>T rs1554064083
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4707G>A (p.Trp1569Ter) rs2114593671
NM_000426.4(LAMA2):c.4818T>G (p.Tyr1606Ter) rs1217989194
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.6430-2A>G rs2114788484
NM_000426.4(LAMA2):c.6548T>G (p.Leu2183Arg) rs2114788785
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000441.2(SLC26A4):c.882_883del (p.His294fs) rs2129314494
NM_000441.2(SLC26A4):c.965dup (p.Asn322fs) rs747834704
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe) rs121912445
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter) rs1237394833
NM_000512.5(GALNS):c.616A>C (p.Thr206Pro) rs1597570621
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.68-2A>C rs2102260263
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000540.3(RYR1):c.11178_11193+7del rs1600949818
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.14738A>G (p.Tyr4913Cys) rs1429521079
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter) rs2122194539
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122764.3(PPOX):c.848T>C (p.Ile283Thr) rs2101886463
NM_001127178.3(PIGG):c.1A>G (p.Met1Val) rs1576983339
NM_001128228.3(TPRN):c.225_235dup (p.Leu79fs) rs387906221
NM_001130987.2(DYSF):c.1381_1418del (p.Leu461fs) rs2152760967
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro) rs2152855991
NM_001130987.2(DYSF):c.3894_3895del (p.Lys1299fs) rs1558584694
NM_001130987.2(DYSF):c.440del (p.Pro147fs) rs2152728763
NM_001130987.2(DYSF):c.4756-1G>A rs2152940909
NM_001130987.2(DYSF):c.6236G>A (p.Trp2079Ter) rs2152971975
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter) rs1314619609
NM_001145026.2(PTPRQ):c.6327+1G>A rs1592779077
NM_001145026.2(PTPRQ):c.6775del (p.Leu2259fs) rs2121304960
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) rs122458144
NM_001159699.2(FHL1):c.509A>C (p.His170Pro) rs1484795726
NM_001159773.2(CANT1):c.493A>G (p.Met165Val) rs2071063107
NM_001160372.4(TRAPPC9):c.2982_2986dup (p.Glu996fs) rs2131117340
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) rs1002525817
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001256007.3(PNPLA8):c.65_66del (p.Gly22fs) rs770314806
NM_001267550.2(TTN):c.106992del (p.Lys35665fs) rs2154131298
NM_001278293.3(ARL6):c.349+1G>A rs2108053962
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His) rs1691301206
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs) rs2136151586
NM_001353214.3(DYM):c.1729-1G>A rs2145988239
NM_001365088.1(SLC12A6):c.1756del (p.Gln586fs) rs2140693094
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001374504.1(TMPRSS6):c.1620_1627del (p.Gln541fs) rs2146038092
NM_001374623.1(PNPLA1):c.670A>G (p.Asn224Asp) rs2127346823
NM_001376.5(DYNC1H1):c.10422_10424dup (p.Arg3474dup) rs2152592115
NM_001378452.1(ITPR1):c.3912C>G (p.His1304Gln) rs556943368
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter) rs145678228
NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter) rs747911784
NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys) rs1256164950
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter) rs2133202137
NM_001384140.1(PCDH15):c.4208_4209del (p.Lys1403fs) rs2132598205
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001692.4(ATP6V1B1):c.509del (p.Pro170fs) rs2104827591
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001849.4(COL6A2):c.1799dup (p.Thr601fs) rs2123660828
NM_001904.4(CTNNB1):c.1793del (p.Leu598fs) rs2125645060
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001942.4(DSG1):c.684+1G>A rs2144093610
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002206.3(ITGA7):c.94_95dup (p.Ala33fs) rs2136102892
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg) rs1571265375
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala) rs1940998166
NM_002465.4(MYBPC1):c.122del (p.Pro41fs) rs2135990843
NM_002485.5(NBN):c.56T>A (p.Leu19Ter) rs749263651
NM_002547.3(OPHN1):c.468_471del (p.Lys156fs) rs2147523877
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter) rs1302961946
NM_002677.5(PMP2):c.144TAT[1] (p.Ile50del) rs2129708244
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003126.4(SPTA1):c.5308C>T (p.Gln1770Ter) rs773168610
NM_003560.4(PLA2G6):c.1469G>A (p.Gly490Asp) rs2145722278
NM_003560.4(PLA2G6):c.1921C>G (p.Pro641Ala) rs2145682922
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003673.4(TCAP):c.14_15del (p.Glu5fs) rs757082868
NM_003673.4(TCAP):c.90_91del (p.Ser31fs) rs1555606976
NM_004006.3(DMD):c.10453_10454insA (p.Leu3485fs) rs2148184147
NM_004006.3(DMD):c.1190del (p.Gly397fs) rs2146821542
NM_004006.3(DMD):c.2328del (p.Lys776fs) rs2148691292
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter) rs1569563678
NM_004006.3(DMD):c.4643T>A (p.Leu1548Ter) rs2147557663
NM_004006.3(DMD):c.8297del (p.Leu2766fs) rs2147176710
NM_004006.3(DMD):c.831G>T (p.Gln277His) rs398124067
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004369.4(COL6A3):c.5524G>C (p.Gly1842Arg) rs1395597644
NM_004369.4(COL6A3):c.8634del (p.Thr2879fs) rs2106314700
NM_004453.4(ETFDH):c.1112T>G (p.Phe371Cys) rs2150312322
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) rs398122797
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004999.4(MYO6):c.1473+1G>A rs2149288272
NM_005236.3(ERCC4):c.715G>A (p.Glu239Lys) rs2141946259
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005422.4(TECTA):c.710C>T (p.Thr237Ile) rs2135060276
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005609.4(PYGM):c.331G>T (p.Glu111Ter) rs779392056
NM_005670.4(EPM2A):c.690G>A (p.Trp230Ter) rs1179064700
NM_005676.5(RBM10):c.355_358del (p.Glu119fs) rs1602556716
NM_005677.4(COLQ):c.1089C>A (p.Tyr363Ter) rs752967536
NM_005677.4(COLQ):c.1257del (p.Ser420fs) rs2125081666
NM_005677.4(COLQ):c.211C>T (p.Arg71Ter) rs1203598816
NM_005677.4(COLQ):c.909del (p.Tyr304fs) rs2125089059
NM_005807.6(PRG4):c.2763_2766del (p.Arg922fs) rs1271513895
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) rs587782996
NM_006009.4(TUBA1A):c.602C>T (p.Ala201Val) rs2121244360
NM_006158.5(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_006204.4(PDE6C):c.1744A>T (p.Arg582Ter) rs2134611976
NM_006306.4(SMC1A):c.1977del (p.Lys660fs) rs2146599602
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter) rs387906804
NM_007175.8(ERLIN2):c.549del (p.Asn182_Tyr183insTer) rs1803175282
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007289.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_007289.4(MME):c.499T>A (p.Trp167Arg) rs201533045
NM_012414.4(RAB3GAP2):c.961-2A>G rs771863504
NM_013275.6(ANKRD11):c.7556A>T (p.His2519Leu) rs2151703086
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014336.5(AIPL1):c.785-1G>C rs2150675170
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.6763del (p.Cys2255fs) rs2137606872
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter) rs1585296361
NM_014738.6(TMEM94):c.683dup (p.Glu229fs) rs2146643195
NM_015346.4(ZFYVE26):c.175del (p.Val59fs) rs2140260770
NM_015346.4(ZFYVE26):c.6197G>A (p.Trp2066Ter) rs2140194241
NM_015346.4(ZFYVE26):c.6707del (p.Lys2236fs) rs2140185428
NM_015915.5(ATL1):c.1225G>A (p.Gly409Ser) rs1064795212
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016194.4(GNB5):c.640_643del (p.Ser214fs) rs2141193854
NM_016239.4(MYO15A):c.3867-1G>A rs993809972
NM_016302.4(CRBN):c.913_914dup (p.Gln306fs) rs2126053905
NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter) rs1295198168
NM_016373.4(WWOX):c.321C>A (p.Tyr107Ter) rs373306276
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_017671.5(FERMT1):c.958-1G>A rs869312726
NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs) rs2148163693
NM_017882.3(CLN6):c.224del (p.Pro75fs) rs2141141525
NM_017882.3(CLN6):c.83+1G>C rs2141156157
NM_017909.4(RMND1):c.504+1G>A rs1562800908
NM_018131.5(CEP55):c.1147G>T (p.Glu383Ter) rs2134490704
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln) rs1135401728
NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter) rs746609932
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs) rs765346218
NM_020376.4(PNPLA2):c.1343dup (p.Cys449fs) rs2133851953
NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu) rs868742399
NM_020435.4(GJC2):c.760G>A (p.Val254Met) rs2124966664
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020451.3(SELENON):c.869_870del (p.Phe290fs) rs2124448112
NM_020533.3(MCOLN1):c.1016del (p.Gly339fs) rs2146024743
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) rs121912823
NM_020771.4(HACE1):c.302C>A (p.Pro101His) rs1582771457
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter) rs1340248169
NM_020987.5(ANK3):c.3327del (p.Glu1110fs) rs2132085924
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.655A>T (p.Ile219Phe) rs2108211362
NM_022041.4(GAN):c.994G>A (p.Gly332Arg) rs1567494825
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly) rs2132740263
NM_022124.6(CDH23):c.3492del (p.Leu1166fs) rs2132805287
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys) rs2132945762
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu) rs868138875
NM_024312.5(GNPTAB):c.2448_2449del (p.Phe816fs) rs2137116356
NM_024577.4(SH3TC2):c.163_164del (p.Ser55fs) rs2127402305
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_024592.5(SRD5A3):c.698-1G>A rs2109488570
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024649.5(BBS1):c.1642del (p.Leu548fs) rs1555050404
NM_024747.6(HPS6):c.1692dup (p.Phe565fs) rs1384342700
NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter) rs2030444679
NM_025137.4(SPG11):c.5473C>T (p.Gln1825Ter) rs2140946934
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_031885.5(BBS2):c.535-1G>C rs2144177127
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) rs779948710
NM_032536.4(NTNG2):c.422T>C (p.Phe141Ser) rs2130728045
NM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter) rs775830195
NM_032856.5(WDR73):c.173_174del (p.Leu58fs) rs2141846587
NM_033022.4(RPS24):c.69+1G>T rs2131976201
NM_033305.3(VPS13A):c.4956+1G>A rs1085307823
NM_033337.3(CAV3):c.154_155dup (p.Ser53fs) rs2124988278
NM_052867.4(NALCN):c.1514del (p.Lys505fs) rs2140132954
NM_052988.5(CDK10):c.202A>T (p.Lys68Ter) rs2151571212
NM_147196.3(TMIE):c.349G>T (p.Glu117Ter) rs2106787058
NM_152443.3(RDH12):c.759dup (p.Phe254fs) rs1594867516
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152618.3(BBS12):c.2019del (p.Trp673fs) rs2150738027
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.776A>G (p.Tyr259Cys) rs2102881813
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn) rs267607631
NM_170784.3(MKKS):c.1334T>G (p.Leu445Ter) rs1057516054
NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs) rs2105992974
NM_177924.5(ASAH1):c.109C>A (p.Pro37Thr) rs2117078394
NM_182548.4(LHFPL5):c.649+1del rs1581972457
NM_182961.4(SYNE1):c.21985_21986del (p.Leu7329fs) rs2153456779
NM_183075.3(CYP2U1):c.631C>T (p.Gln211Ter) rs2126199263
NM_194248.3(OTOF):c.3570+2T>C rs1464318474
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer) rs2128345173
NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr) rs2125304648
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201384.3(PLEC):c.2983C>T (p.Gln995Ter) rs1554711139
NM_201384.3(PLEC):c.6388C>T (p.Gln2130Ter) rs781823434
NM_201384.3(PLEC):c.647_656del (p.Leu216fs) rs2132086965
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462
NM_206933.4(USH2A):c.9945C>A (p.Tyr3315Ter) rs1161652737
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457

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