ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Myriad Genetics, Inc.

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
NM_000023.4(SGCA):c.119del (p.Leu40fs)
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
NM_000023.4(SGCA):c.84_90del (p.His29fs)
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) rs2039217093
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
NM_000152.5(GAA):c.1814del (p.Gly605fs)
NM_000152.5(GAA):c.1966del (p.Glu656fs)
NM_000152.5(GAA):c.2088del (p.Lys697fs)
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) rs2039289942
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2395del (p.His799fs)
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) rs2039403673
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) rs2039131123
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) rs138097673
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter) rs1669918554
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter) rs1669632177
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter) rs1670695099
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter) rs1460602961
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter) rs1670693281
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter) rs11552518
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter) rs1670589674
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter) rs1670587952
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
NM_000182.5(HADHA):c.761del (p.Lys254fs)
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter) rs1670172615
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter) rs1670172561
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter) rs1670128490
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
NM_000337.6(SGCD):c.208_210delinsGT (p.Leu70fs)
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)

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