ClinVar Miner

List of variants in gene PYGM reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP
NC_000011.10:g.64747034A>G
NC_000011.10:g.64759608T>C
NM_005609.3(PYGM):c.424+9_424+12delACAG rs1393111280
NM_005609.3(PYGM):c.660+13_660+15delCTG rs760532304
NM_005609.4(PYGM):c.*11C>T rs763468272
NM_005609.4(PYGM):c.-15C>T rs544636087
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1093-10C>T rs763253788
NM_005609.4(PYGM):c.1136C>T (p.Thr379Met) rs1131691807
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.120C>T (p.Leu40=) rs370819554
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1239+18G>C rs533410561
NM_005609.4(PYGM):c.1240-16G>A rs573898801
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.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1403+2dup rs1489442842
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1518+171A>T
NM_005609.4(PYGM):c.1518+7G>C rs749236693
NM_005609.4(PYGM):c.1519-279G>C
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) rs540436223
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
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.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.1620+3G>T rs548943016
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1768+51C>T
NM_005609.4(PYGM):c.1769-3C>T rs748622689
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245
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.1969+266_1969+267insAC
NM_005609.4(PYGM):c.1969+272T>C
NM_005609.4(PYGM):c.1969+277G>A
NM_005609.4(PYGM):c.1969+280A>G
NM_005609.4(PYGM):c.1969+286G>C
NM_005609.4(PYGM):c.1969+293A>G
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361
NM_005609.4(PYGM):c.2165T>G (p.Leu722Arg) rs1131691265
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2178-1G>A rs143670942
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.2286T>G (p.Ile762Met)
NM_005609.4(PYGM):c.2312+13_2312+50del rs1555133408
NM_005609.4(PYGM):c.2312+16C>T rs184694130
NM_005609.4(PYGM):c.2312+7del rs779743185
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
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.2400G>A (p.Arg800=) rs1555133225
NM_005609.4(PYGM):c.244-5G>T rs772197464
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.278G>T (p.Gly93Val) rs1085307918
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.345+11G>A rs760751053
NM_005609.4(PYGM):c.345+17G>A rs774602584
NM_005609.4(PYGM):c.345+18C>A
NM_005609.4(PYGM):c.390G>A (p.Ala130=) rs771873586
NM_005609.4(PYGM):c.397G>A (p.Gly133Ser) rs1085308021
NM_005609.4(PYGM):c.402C>T (p.Asn134=)
NM_005609.4(PYGM):c.424+16C>T rs201194596
NM_005609.4(PYGM):c.424+17G>A rs202244109
NM_005609.4(PYGM):c.424+6A>G
NM_005609.4(PYGM):c.425-22C>T rs61884454
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.522C>A (p.Gly174=) rs771328699
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
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.618T>A (p.His206Gln) rs371343340
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.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-464G>T
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-606A>C rs192786771
NM_005609.4(PYGM):c.687G>C (p.Thr229=) rs764624576
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708
NM_005609.4(PYGM):c.729C>T (p.Arg243=) rs151160016
NM_005609.4(PYGM):c.773-18C>T rs758771932
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.849T>C (p.Asn283=)
NM_005609.4(PYGM):c.855+4C>T rs199834605
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974
NM_005609.4(PYGM):c.966C>T (p.Pro322=) rs377041639
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842
NM_005609.4(PYGM):c.999+10G>A rs199638571
NM_005609.4(PYGM):c.999+20C>T rs201711087

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