ClinVar Miner

List of variants in gene PYGL studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
NM_002863.4(PYGL):c.-127A>G rs67490748
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.*129T>C rs886050536
NM_002863.5(PYGL):c.*78G>A
NM_002863.5(PYGL):c.*7G>C rs1042266
NM_002863.5(PYGL):c.-29A>C rs538311514
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp) rs886050538
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643
NM_002863.5(PYGL):c.1063G>A (p.Val355Met)
NM_002863.5(PYGL):c.1092+11T>G
NM_002863.5(PYGL):c.1093-11C>G
NM_002863.5(PYGL):c.1093-6C>A rs147211684
NM_002863.5(PYGL):c.1119C>T (p.Phe373=) rs151022264
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys)
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) rs113993978
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln) rs369207678
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499
NM_002863.5(PYGL):c.132C>T (p.Arg44=) rs144280508
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu) rs779051230
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu)
NM_002863.5(PYGL):c.1404-8A>G rs374360647
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn) rs78433217
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
NM_002863.5(PYGL):c.1519-15C>A rs372886463
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
NM_002863.5(PYGL):c.1620+10C>G rs367866027
NM_002863.5(PYGL):c.1620+12A>T
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_002863.5(PYGL):c.1620+1G>C
NM_002863.5(PYGL):c.1620+1G>T
NM_002863.5(PYGL):c.1621-6T>C rs74539788
NM_002863.5(PYGL):c.1629G>A (p.Lys543=)
NM_002863.5(PYGL):c.1656G>A (p.Thr552=) rs376165151
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro)
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)
NM_002863.5(PYGL):c.1728A>G (p.Arg576=) rs143287753
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1748A>G (p.His583Arg)
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341
NM_002863.5(PYGL):c.1768+10C>T
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902
NM_002863.5(PYGL):c.1824T>C (p.Gly608=) rs141456201
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.1828-9T>A rs372338710
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) rs113993983
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)
NM_002863.5(PYGL):c.1995G>A (p.Glu665=)
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) rs113993985
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg)
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser)
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr) rs555408487
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875
NM_002863.5(PYGL):c.2177+2T>C
NM_002863.5(PYGL):c.2178-10T>A rs879201864
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser) rs759925909
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met) rs766875279
NM_002863.5(PYGL):c.2358T>C (p.Asp786=)
NM_002863.5(PYGL):c.2380-15A>G rs886050537
NM_002863.5(PYGL):c.2380-9T>C rs368714229
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) rs113993988
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.2481C>T (p.Asn827=) rs755274555
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_002863.5(PYGL):c.275T>C (p.Met92Thr)
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala)
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser)
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr)
NM_002863.5(PYGL):c.33dup (p.Arg12fs)
NM_002863.5(PYGL):c.360A>T (p.Ile120=)
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys) rs144099482
NM_002863.5(PYGL):c.369A>G (p.Leu123=)
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser) rs780574052
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn) rs1566518078
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile) rs1596047964
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883
NM_002863.5(PYGL):c.528+2T>C
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg) rs770642815
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)
NM_002863.5(PYGL):c.663G>A (p.Val221=)
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112
NM_002863.5(PYGL):c.696C>T (p.Pro232=)
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975
NM_002863.5(PYGL):c.704T>C (p.Met235Thr)
NM_002863.5(PYGL):c.728G>A (p.Arg243His)
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
NM_002863.5(PYGL):c.772+14A>G
NM_002863.5(PYGL):c.772+16G>T rs17123173
NM_002863.5(PYGL):c.772+1G>A rs776545903
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_002863.5(PYGL):c.772+5G>T
NM_002863.5(PYGL):c.773-13A>G rs775151283
NM_002863.5(PYGL):c.780del (p.Gly261fs) rs1489848369
NM_002863.5(PYGL):c.78A>G (p.Ala26=)
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp)
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln) rs375172368
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala)
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563
NM_002863.5(PYGL):c.993G>A (p.Pro331=)

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