ClinVar Miner

List of variants in gene PYGM reported as likely pathogenic by GeneDx

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00010
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.1136C>T (p.Thr379Met) rs1131691807 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.278G>T (p.Gly93Val) rs1085307918
NM_005609.4(PYGM):c.397G>A (p.Gly133Ser) rs1085308021

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