ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999

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