ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics, University of Wuerzburg

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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_004373.4(COX6A1):c.103+1G>C rs377504835 0.00004
NM_000257.4(MYH7):c.1000-1G>A rs113392527 0.00003
NM_001372.4(DNAH9):c.5651G>C (p.Gly1884Ala) rs577054880 0.00003
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) rs1324430830 0.00001
46,Y,inv(X)(p21.1q13.3)
NC_000023.11:g.32644161_32644191delins32644164_32644199inv
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) rs978962357
NM_000062.3(SERPING1):c.51+1del rs1590821401
NM_000095.3(COMP):c.1501G>A (p.Gly501Ser) rs2145900523
NM_000138.5(FBN1):c.7774T>G (p.Cys2592Gly) rs1597512636
NM_000166.6(GJB1):c.218A>G (p.His73Arg) rs748384293
NM_000166.6(GJB1):c.318dup (p.Arg107fs) rs2147945859
NM_000166.6(GJB1):c.455T>C (p.Val152Ala)
NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.2068-1G>A rs2142857371
NM_000256.3(MYBPC3):c.2905+1G>T
NM_000256.3(MYBPC3):c.2994+1G>A rs2095879885
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met) rs769484001
NM_000257.4(MYH7):c.5168TCA[1] (p.Ile1724del) rs886044910
NM_000257.4(MYH7):c.578A>G (p.Gln193Arg)
NM_000304.4(PMP22):c.55dup (p.Leu19fs) rs2150710134
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter) rs1583169151
NM_000426.4(LAMA2):c.2857-1G>A rs2114450848
NM_000426.4(LAMA2):c.5460del (p.Val1821fs) rs1562530132
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg) rs1558558939
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) rs1553415164
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.646-2A>C rs1670228122
NM_000530.8(MPZ):c.73_74delinsA (p.Ser25fs)
NM_000533.5(PLP1):c.25A>T (p.Arg9Ter) rs2074488502
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_001009944.3(PKD1):c.10619-1G>A rs1567159074
NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs) rs1596536873
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del) rs1841769844
NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter) rs1762648883
NM_001080517.3(SETD5):c.2182del (p.Asp728fs) rs2125288982
NM_001127222.2(CACNA1A):c.1914-1G>A rs2145002387
NM_001130438.3(SPTAN1):c.1347_1348del (p.Arg449fs) rs1851867365
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313
NM_001134407.3(GRIN2A):c.1946T>G (p.Leu649Arg)
NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)
NM_001165963.4(SCN1A):c.2081C>A (p.Ser694Ter)
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys) rs1672530798
NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)
NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter) rs2106003241
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
NM_001267550.2(TTN):c.87877del (p.Arg29293fs) rs2154155591
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) rs1257886811
NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter) rs1562691736
NM_001369268.1(ACAN):c.6798_6799delinsTT (p.Glu2267Ter) rs2141613985
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001378183.1(PIEZO2):c.410G>A (p.Trp137Ter) rs2144788058
NM_001458.5(FLNC):c.2504dup (p.Pro836fs) rs1554398705
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.4702del (p.Asp1568fs)
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe) rs1808685364
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_001848.3(COL6A1):c.991_999del (p.328DGV[1])
NM_001849.4(COL6A2):c.963del (p.Gly322fs)
NM_002161.6(IARS1):c.578delinsTT (p.Glu193fs) rs2133977803
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) rs1565083843
NM_002700.3(POU4F3):c.494_497del (p.His165fs)
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp) rs1385053433
NM_003235.5(TG):c.5804del (p.Asn1935fs) rs1587618417
NM_003244.4(TGIF1):c.16+1805del
NM_003280.3(TNNC1):c.130G>A (p.Val44Met) rs1706339531
NM_003476.5(CSRP3):c.282-1G>A
NM_004006.3(DMD):c.10211del (p.Asp3404fs) rs1114167437
NM_004006.3(DMD):c.1509del (p.Glu503fs) rs2055460202
NM_004006.3(DMD):c.1812+601A>G rs1603636710
NM_004006.3(DMD):c.3030_3031del (p.Pro1011fs) rs2148460005
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.4071+1del rs1114167439
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
NM_004006.3(DMD):c.5060del (p.Asn1687fs)
NM_004006.3(DMD):c.5155-719_5155-31del
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.9225-1G>C
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs) rs1582025807
NM_004393.6(DAG1):c.839del (p.Pro280fs) rs2107929323
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs) rs2099887720
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter) rs753100456
NM_005340.7(HINT1):c.209A>G (p.Asp70Gly) rs1561537267
NM_006009.4(TUBA1A):c.322T>C (p.Tyr108His) rs2121246535
NM_006612.6(KIF1C):c.864+1G>A rs1567721108
NM_007194.4(CHEK2):c.1504del (p.Glu502fs) rs1601702086
NM_007289.4(MME):c.1892G>A (p.Trp631Ter)
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs) rs2034289118
NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs) rs2151736830
NM_013296.5(GPSM2):c.1600+3A>C
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014846.4(WASHC5):c.1275dup (p.Glu426fs) rs1816782806
NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del) rs886044914
NM_015295.3(SMCHD1):c.261del (p.Phe87fs) rs2143801614
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr) rs1568280995
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg) rs1204021010
NM_015295.3(SMCHD1):c.3927+2dup rs2075481193
NM_015295.3(SMCHD1):c.4966+5G>A rs1598426626
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys) rs867104086
NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter) rs371884821
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_017534.6(MYH2):c.3768del (p.Thr1257fs) rs2073373034
NM_017534.6(MYH2):c.5510dup (p.Arg1838fs) rs1297291974
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter) rs959109094
NM_020451.3(SELENON):c.872+1G>A rs2047936719
NM_021083.4(XK):c.771G>A (p.Trp257Ter)
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_022041.4(GAN):c.141C>G (p.Ile47Met) rs373819552
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)
NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs) rs751000250
NM_153816.6(SNX14):c.867+1G>T rs1786449736
NM_170707.4(LMNA):c.1158-9_1173del rs1651596554
NM_170707.4(LMNA):c.555_556del (p.Asp185fs) rs1572358674
NM_197968.4(ZMYM2):c.3411T>G (p.Tyr1137Ter) rs765831882
NM_207037.2(TCF12):c.1467+1G>C rs1566992093
NM_213599.3(ANO5):c.364-2A>G rs776474397
NM_213599.3(ANO5):c.758A>C (p.His253Pro) rs886044915

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