ClinVar Miner

List of variants in gene PYGM reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 52
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HGVS dbSNP
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103
NM_005609.4(PYGM):c.131G>A (p.Arg44His) rs567482511
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189
NM_005609.4(PYGM):c.2147T>G (p.Val716Gly) rs750483467
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly) rs369382075
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.352C>T (p.Leu118=) rs770341565
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-9C>T rs776779910
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.855+5G>A
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.4(PYGM):c.999+20C>T rs201711087

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