ClinVar Miner

List of variants in gene PYGM studied for Inborn genetic diseases

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser) rs140016055 0.00009
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.1507G>A (p.Val503Ile) rs149932883 0.00004
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys) rs781394907 0.00002
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys) rs749507354 0.00001
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
NM_005609.4(PYGM):c.1172A>C (p.His391Pro)
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
NM_005609.4(PYGM):c.1316G>A (p.Arg439His)
NM_005609.4(PYGM):c.1330C>T (p.His444Tyr)
NM_005609.4(PYGM):c.1384G>C (p.Glu462Gln)
NM_005609.4(PYGM):c.1555C>G (p.Leu519Val)
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu)
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
NM_005609.4(PYGM):c.2332T>G (p.Tyr778Asp)
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
NM_005609.4(PYGM):c.529A>G (p.Met177Val)
NM_005609.4(PYGM):c.649G>A (p.Val217Met)
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386

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