ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys) rs563225941 0.00006
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000257.4(MYH7):c.595G>A (p.Ala199Thr) rs730880845
NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs)
NM_001005242.3(PKP2):c.2346del (p.Ser782fs)
NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)
NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)
NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)
NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001276345.2(TNNT2):c.299T>A (p.Ile100Asn) rs2102262330
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) rs730881106
NM_001985.3(ETFB):c.136del (p.Val46fs)
NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_004281.4(BAG3):c.751dup (p.Gln251fs)
NM_004281.4(BAG3):c.901_902del (p.Arg301fs)
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro) rs2131277648
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_020778.5(ALPK3):c.1103_1113del (p.Thr368fs)
NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.287G>T (p.Gly96Val) rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)
NM_198060.4(NRAP):c.3301-2A>G rs2133935229

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