ClinVar Miner

List of variants in gene PYGM reported by Illumina Clinical Services Laboratory,Illumina

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Total variants: 54
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HGVS dbSNP
NM_005609.2(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.2(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.2(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.2(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.3(PYGM):c.-146C>A rs764403406
NM_005609.3(PYGM):c.-234C>T rs886048466
NM_005609.3(PYGM):c.-23G>A rs886048465
NM_005609.3(PYGM):c.-381T>C rs483962
NM_005609.3(PYGM):c.-556C>G rs886048467
NM_005609.3(PYGM):c.-668C>T rs886048468
NM_005609.3(PYGM):c.-724C>G rs754685048
NM_005609.3(PYGM):c.-789T>C rs143460923
NM_005609.3(PYGM):c.1011G>A (p.Gln337=) rs767039732
NM_005609.3(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.3(PYGM):c.1092+6dupC rs368602234
NM_005609.3(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.3(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.3(PYGM):c.1196G>A (p.Arg399Gln) rs548646628
NM_005609.3(PYGM):c.1239+12G>A rs760471706
NM_005609.3(PYGM):c.1239+8C>T rs886048461
NM_005609.3(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.3(PYGM):c.1266C>T (p.Asp422=) rs769602726
NM_005609.3(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.3(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.3(PYGM):c.1827+7A>G rs532747
NM_005609.3(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.3(PYGM):c.2128_2130delTTC (p.Phe710del) rs527236147
NM_005609.3(PYGM):c.2177+7G>A rs201366697
NM_005609.3(PYGM):c.2262delA (p.Lys754Asnfs) rs398124210
NM_005609.3(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.3(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.3(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.3(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.3(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.3(PYGM):c.2389G>C (p.Glu797Gln) rs577589879
NM_005609.3(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.3(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.3(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.3(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.3(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.3(PYGM):c.541G>A (p.Asp181Asn) rs551666681
NM_005609.3(PYGM):c.589T>C (p.Phe197Leu) rs773595572
NM_005609.3(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.3(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.3(PYGM):c.64G>A (p.Val22Met) rs140731551
NM_005609.3(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.3(PYGM):c.661-5C>G rs75633423
NM_005609.3(PYGM):c.752A>G (p.Asn251Ser) rs143071876
NM_005609.3(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.3(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.3(PYGM):c.98A>G (p.Asn33Ser) rs886048463
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599

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