ClinVar Miner

List of variants in gene POMT1 reported by Baylor Genetics

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Total variants: 9
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HGVS dbSNP
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr)
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr)
NM_001077365.2(POMT1):c.280+1G>T rs746823238
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys)
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235

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