ClinVar Miner

List of variants in gene PYGM reported as likely benign for Glycogen storage disease, type V

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Total variants: 8
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HGVS dbSNP
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186

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