ClinVar Miner

List of variants in gene PYGM reported as pathogenic for not provided

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Total variants: 12
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NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.2178-1G>A rs143670942
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769

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