ClinVar Miner

List of variants in gene PYGM studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP
NM_005609.2(PYGM):c.1136C>T (p.Thr379Met) rs1131691807
NM_005609.2(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.2(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.2(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.2(PYGM):c.1342G>A (p.Ala448Thr) rs749358752
NM_005609.2(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.2(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.2(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.2(PYGM):c.1466dupC (p.Arg490Serfs) rs886041476
NM_005609.2(PYGM):c.1620+3G>T rs548943016
NM_005609.2(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.2(PYGM):c.1768+1G>A rs771427957
NM_005609.2(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.2(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.2(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.2(PYGM):c.1925G>A (p.Arg642His) rs150098198
NM_005609.2(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.2(PYGM):c.2165T>G (p.Leu722Arg) rs1131691265
NM_005609.2(PYGM):c.2178-1G>A rs143670942
NM_005609.2(PYGM):c.397G>A (p.Gly133Ser) rs1085308021
NM_005609.2(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.2(PYGM):c.618T>A (p.His206Gln) rs371343340
NM_005609.2(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.2(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.2(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.2(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.2(PYGM):c.8G>A (p.Arg3Gln) rs374812974
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.1143G>A (p.Leu381=) rs143401208
NM_005609.3(PYGM):c.1160G>A (p.Arg387His) rs200357590
NM_005609.3(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.3(PYGM):c.1218G>T (p.Glu406Asp) rs757762621
NM_005609.3(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.3(PYGM):c.1272C>A (p.Asp424Glu) rs372851103
NM_005609.3(PYGM):c.131G>A (p.Arg44His) rs567482511
NM_005609.3(PYGM):c.1343C>T (p.Ala448Val) rs370291854
NM_005609.3(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.3(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.3(PYGM):c.1403+24G>A rs71581782
NM_005609.3(PYGM):c.1403+2dup rs1489442842
NM_005609.3(PYGM):c.1456G>A (p.Gly486Ser) rs926661627
NM_005609.3(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
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.1537A>G (p.Ile513Val) rs139570786
NM_005609.3(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.3(PYGM):c.1621-19delT rs571976523
NM_005609.3(PYGM):c.1827+7A>G rs532747
NM_005609.3(PYGM):c.1918C>T (p.Arg640Cys) rs771016457
NM_005609.3(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.3(PYGM):c.1970-2A>T rs1064797157
NM_005609.3(PYGM):c.2024C>T (p.Ser675Leu) rs794727189
NM_005609.3(PYGM):c.2147T>G (p.Val716Gly) rs750483467
NM_005609.3(PYGM):c.2262delA (p.Lys754Asnfs) rs398124210
NM_005609.3(PYGM):c.2311C>G (p.Arg771Gly) rs369382075
NM_005609.3(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.3(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.3(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005609.3(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.3(PYGM):c.278G>T (p.Gly93Val) rs1085307918
NM_005609.3(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.3(PYGM):c.352C>T (p.Leu118=) rs770341565
NM_005609.3(PYGM):c.425-22C>T rs61884454
NM_005609.3(PYGM):c.501dup (p.Asn168Terfs) rs1555136390
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.661-9C>T rs776779910
NM_005609.3(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005609.3(PYGM):c.818C>T (p.Ala273Val) rs768576604
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.999+20C>T rs201711087
NM_005609.4(PYGM):c.1429C>A (p.Pro477Thr)
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
NM_005609.4(PYGM):c.1697T>G (p.Ile566Ser)
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
NM_005609.4(PYGM):c.1886A>G (p.Asp629Gly)
NM_005609.4(PYGM):c.2309A>C (p.Asp770Ala)
NM_005609.4(PYGM):c.395_408del (p.Leu132Profs)
NM_005609.4(PYGM):c.855+5G>A
NM_005609.4(PYGM):c.856-2A>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.