ClinVar Miner

List of variants reported as likely pathogenic for Visceral myopathy

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Total variants: 9
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NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) rs1573468797
NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) rs757905857
NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) rs730880256
NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp)
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) rs786205435
NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) rs1596904322
Single allele

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