ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
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.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191

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