ClinVar Miner

List of variants in gene PYGM reported as pathogenic by OMIM

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_005609.2(PYGM):c.425_528del rs764313717
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) rs119103254
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) rs119103257
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
PYGM, 1-BP INS, A/8-BP DEL, CODON 387
PYGM, 3-BP DEL, 158ACT
PYGM, IVS14, G-A, +1
PYGM, IVS5AS, G-A, -601

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