ClinVar Miner

List of variants in gene PPP1R13L studied for cardiomyopathy

Included ClinVar conditions (519):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter) rs1290915929 0.00001
NM_006663.4(PPP1R13L):c.1537del (p.Val513fs) rs34338233
NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs) rs1972986097
NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro) rs1972850689
NM_006663.4(PPP1R13L):c.2396G>C (p.Trp799Ser) rs748300482
NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe) rs1972735240
NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs) rs1973093514

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