ClinVar Miner

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

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Gene type:
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Total variants: 87
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HGVS dbSNP
NM_001164716.1(PYGM):c.-146C>A rs764403406
NM_001164716.1(PYGM):c.-234C>T rs886048466
NM_001164716.1(PYGM):c.-381T>C rs483962
NM_001164716.1(PYGM):c.-556C>G rs886048467
NM_001164716.1(PYGM):c.-668C>T rs886048468
NM_001164716.1(PYGM):c.-724C>G rs754685048
NM_001164716.1(PYGM):c.-789T>C rs143460923
NM_005609.4(PYGM):c.*80G>A
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.-76A>G
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+15C>T
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628
NM_005609.4(PYGM):c.1239+12G>A rs760471706
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
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.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
NM_005609.4(PYGM):c.1769-7T>C
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
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.2032G>A (p.Gly678Ser)
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072
NM_005609.4(PYGM):c.2125_2127TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.346-9C>T rs368998655
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
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.752A>G (p.Asn251Ser) rs143071876
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463

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