ClinVar Miner

List of variants in gene PYGM reported by GeneReviews

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Total variants: 13
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HGVS dbSNP
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) rs1212604
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896

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