ClinVar Miner

List of variants in gene PYGM studied for not specified

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_005609.2(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.2(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.3(PYGM):c.*11C>T rs763468272
NM_005609.3(PYGM):c.-15C>T rs544636087
NM_005609.3(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.3(PYGM):c.1092+6dupC rs368602234
NM_005609.3(PYGM):c.1093-10C>T rs763253788
NM_005609.3(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.3(PYGM):c.120C>T (p.Leu40=) rs370819554
NM_005609.3(PYGM):c.1215C>T (p.Tyr405=) rs371264447
NM_005609.3(PYGM):c.1239+18G>C rs533410561
NM_005609.3(PYGM):c.1240-16G>A rs573898801
NM_005609.3(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.3(PYGM):c.1403+49C>A rs2959652
NM_005609.3(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.3(PYGM):c.1518+7G>C rs749236693
NM_005609.3(PYGM):c.1524C>T (p.Ile508=) rs540436223
NM_005609.3(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.3(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.3(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.3(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.3(PYGM):c.1621-19delT rs571976523
NM_005609.3(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.3(PYGM):c.1769-3C>T rs748622689
NM_005609.3(PYGM):c.1827+7A>G rs532747
NM_005609.3(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.3(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.3(PYGM):c.1888G>A (p.Val630Met) rs115347245
NM_005609.3(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.3(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.3(PYGM):c.2109G>A (p.Glu703=) rs200537357
NM_005609.3(PYGM):c.2112G>A (p.Ala704=) rs61737361
NM_005609.3(PYGM):c.2177+7G>A rs201366697
NM_005609.3(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.3(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.3(PYGM):c.2312+13_2312+50del38 rs1555133408
NM_005609.3(PYGM):c.2312+16C>T rs184694130
NM_005609.3(PYGM):c.2312+7delT rs779743185
NM_005609.3(PYGM):c.2313-47T>C rs569602
NM_005609.3(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.3(PYGM):c.2400G>A (p.Arg800=) rs1555133225
NM_005609.3(PYGM):c.243+48A>G rs477549
NM_005609.3(PYGM):c.244-5G>T rs772197464
NM_005609.3(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.3(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.3(PYGM):c.345+11G>A rs760751053
NM_005609.3(PYGM):c.345+17G>A rs774602584
NM_005609.3(PYGM):c.390G>A (p.Ala130=) rs771873586
NM_005609.3(PYGM):c.424+16C>T rs201194596
NM_005609.3(PYGM):c.424+17G>A rs202244109
NM_005609.3(PYGM):c.424+9_424+12delACAG rs1393111280
NM_005609.3(PYGM):c.425-22C>T rs61884454
NM_005609.3(PYGM):c.516C>T (p.Ser172=) rs147402432
NM_005609.3(PYGM):c.522C>A (p.Gly174=) rs771328699
NM_005609.3(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.3(PYGM):c.558C>T (p.Tyr186=) rs144298015
NM_005609.3(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.3(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.3(PYGM):c.660+13_660+15delCTG rs760532304
NM_005609.3(PYGM):c.660+35G>A rs589691
NM_005609.3(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.3(PYGM):c.661-5C>G rs75633423
NM_005609.3(PYGM):c.661-606A>C rs192786771
NM_005609.3(PYGM):c.687G>C (p.Thr229=) rs764624576
NM_005609.3(PYGM):c.723C>T (p.Thr241=) rs772848708
NM_005609.3(PYGM):c.729C>T (p.Arg243=) rs151160016
NM_005609.3(PYGM):c.773-18C>T rs758771932
NM_005609.3(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.3(PYGM):c.855+4C>T rs199834605
NM_005609.3(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.3(PYGM):c.966C>T (p.Pro322=) rs377041639
NM_005609.3(PYGM):c.975G>A (p.Thr325=) rs747106887
NM_005609.3(PYGM):c.981C>T (p.Phe327=) rs146289842
NM_005609.3(PYGM):c.999+10G>A rs199638571
NM_005609.3(PYGM):c.999+20C>T rs201711087

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