ClinVar Miner

List of variants in gene PYGM reported as likely pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_005609.4(PYGM):c.1136C>T (p.Thr379Met) rs1131691807
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1403+2dup rs1489442842
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.278G>T (p.Gly93Val) rs1085307918
NM_005609.4(PYGM):c.397G>A (p.Gly133Ser) rs1085308021

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