ClinVar Miner

List of variants in gene PYGM reported as uncertain significance by GeneDx

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Total variants: 20
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HGVS dbSNP
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1620+3G>T rs548943016
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2165T>G (p.Leu722Arg) rs1131691265
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.618T>A (p.His206Gln) rs371343340
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974

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