ClinVar Miner

List of variants reported as uncertain significance for Primary dilated cardiomyopathy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) rs201917013 0.00004
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_000257.4(MYH7):c.1565A>T (p.Asp522Val) rs1595086146
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) rs1572596015
NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn) rs1571605501
NM_001330.5(CTF1):c.465dup (p.Ala156fs) rs1218236539
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) rs1585159928
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu) rs1585162066
NM_007271.4(STK38):c.222dup (p.Glu75fs) rs1582441467
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp) rs886038800
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg) rs766972389

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