ClinVar Miner

List of variants in gene PYGM reported as likely benign

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Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP
NM_005609.4(PYGM):c.*11C>T rs763468272
NM_005609.4(PYGM):c.-15C>T rs544636087
NM_005609.4(PYGM):c.1000-10C>T rs749114783
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
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+6dup rs368602234
NM_005609.4(PYGM):c.1093-10C>T rs763253788
NM_005609.4(PYGM):c.1093-5G>A rs745663647
NM_005609.4(PYGM):c.1093-9G>C rs571244371
NM_005609.4(PYGM):c.1095G>A (p.Ala365=) rs1370804680
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208
NM_005609.4(PYGM):c.1146C>T (p.Pro382=) rs767963946
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590
NM_005609.4(PYGM):c.1189C>T (p.Leu397=) rs1592411631
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.1239+18G>C rs533410561
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1239+9G>A rs374937711
NM_005609.4(PYGM):c.1240-16G>A rs573898801
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.1347G>T (p.Gly449=) rs141152121
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118
NM_005609.4(PYGM):c.1356C>G (p.Ala452=) rs756953943
NM_005609.4(PYGM):c.1362C>T (p.Asn454=) rs375294505
NM_005609.4(PYGM):c.1371G>A (p.Ala457=) rs766082496
NM_005609.4(PYGM):c.1395G>A (p.Lys465=) rs555057489
NM_005609.4(PYGM):c.1403+24G>A rs71581782
NM_005609.4(PYGM):c.1518+7G>C rs749236693
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.1621-19del rs571976523
NM_005609.4(PYGM):c.1623A>G (p.Glu541=) rs1592409772
NM_005609.4(PYGM):c.1630T>C (p.Leu544=) rs973893149
NM_005609.4(PYGM):c.1668C>G (p.Val556=) rs771619843
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1716C>T (p.His572=) rs754944948
NM_005609.4(PYGM):c.1769-3C>T rs748622689
NM_005609.4(PYGM):c.1769-4A>C rs1592409359
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.1863C>T (p.Ile621=) rs1592409104
NM_005609.4(PYGM):c.1869C>T (p.Leu623=) rs144764922
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.1926T>C (p.Arg642=) rs779048512
NM_005609.4(PYGM):c.1970-5C>T rs1414755282
NM_005609.4(PYGM):c.1986C>T (p.Asp662=) rs1592408469
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2070T>C (p.Ile690=) rs766360254
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072
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.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2177+9G>A rs1592408105
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.4(PYGM):c.2220G>C (p.Arg740=) rs533583089
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2271C>T (p.Asp757=) rs1312751218
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
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.2313-7C>T rs768815722
NM_005609.4(PYGM):c.2355G>A (p.Gln785=) rs1592405031
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2400G>A (p.Arg800=) rs1555133225
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG rs60191633
NM_005609.4(PYGM):c.244-5G>T rs772197464
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.345+11G>A rs760751053
NM_005609.4(PYGM):c.345+17G>A rs774602584
NM_005609.4(PYGM):c.345+18C>A rs763866615
NM_005609.4(PYGM):c.345+8T>G rs766800006
NM_005609.4(PYGM):c.346-9C>T rs368998655
NM_005609.4(PYGM):c.390G>A (p.Ala130=) rs771873586
NM_005609.4(PYGM):c.402C>T (p.Asn134=) rs372262267
NM_005609.4(PYGM):c.411G>A (p.Leu137=) rs746345515
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 rs764920938
NM_005609.4(PYGM):c.424+9_424+12del rs1393111280
NM_005609.4(PYGM):c.474C>T (p.Tyr158=) rs766020669
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432
NM_005609.4(PYGM):c.522C>A (p.Gly174=) rs771328699
NM_005609.4(PYGM):c.528+9C>T rs371349986
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
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.594G>A (p.Thr198=) rs1386180219
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.630C>T (p.Thr210=) rs115141783
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628
NM_005609.4(PYGM):c.660+13_660+15del rs760532304
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-5C>T rs75633423
NM_005609.4(PYGM):c.661-606A>C rs192786771
NM_005609.4(PYGM):c.681C>T (p.Tyr227=) rs377503100
NM_005609.4(PYGM):c.687G>C (p.Thr229=) rs764624576
NM_005609.4(PYGM):c.690C>T (p.Pro230=) rs946190237
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.72C>T (p.Asn24=) rs757114579
NM_005609.4(PYGM):c.773-18C>T rs758771932
NM_005609.4(PYGM):c.773-7C>T rs1413766441
NM_005609.4(PYGM):c.819G>A (p.Ala273=) rs763918119
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.849T>C (p.Asn283=) rs1592413061
NM_005609.4(PYGM):c.84G>A (p.Leu28=) rs752615989
NM_005609.4(PYGM):c.855+4C>T rs199834605
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.951C>T (p.Phe317=) rs71581789
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
NM_005609.4(PYGM):c.999+9C>T rs183026465

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