ClinVar Miner

List of variants in gene PC reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 308
Download table as spreadsheet
HGVS dbSNP
NM_001040716.2(PC):c.1020C>G (p.Thr340=) rs201344655
NM_001040716.2(PC):c.1020C>T (p.Thr340=)
NM_001040716.2(PC):c.1023-14_1023-6del
NM_001040716.2(PC):c.1023-4A>G
NM_001040716.2(PC):c.1050C>T (p.His350=) rs770612085
NM_001040716.2(PC):c.1074C>T (p.Pro358=)
NM_001040716.2(PC):c.1092G>A (p.Gln364=)
NM_001040716.2(PC):c.1098C>T (p.Asn366=)
NM_001040716.2(PC):c.1110C>T (p.Asn370=) rs776429910
NM_001040716.2(PC):c.1140C>T (p.Thr380=)
NM_001040716.2(PC):c.1146C>T (p.Asp382=)
NM_001040716.2(PC):c.1149C>T (p.Pro383=)
NM_001040716.2(PC):c.1152G>A (p.Ala384=)
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1173C>T (p.Thr391=) rs202135326
NM_001040716.2(PC):c.1185+7G>A
NM_001040716.2(PC):c.1221G>A (p.Leu407=) rs771046930
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743
NM_001040716.2(PC):c.1248C>T (p.Ala416=)
NM_001040716.2(PC):c.1257G>A (p.Ser419=) rs1417266857
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
NM_001040716.2(PC):c.1269C>T (p.Asp423=)
NM_001040716.2(PC):c.1296C>T (p.His432=) rs751412938
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)
NM_001040716.2(PC):c.1299C>G (p.Gly433=) rs763937652
NM_001040716.2(PC):c.1308C>T (p.His436=)
NM_001040716.2(PC):c.1311C>G (p.Pro437=)
NM_001040716.2(PC):c.1317C>T (p.Ala439=)
NM_001040716.2(PC):c.1326G>A (p.Lys442=)
NM_001040716.2(PC):c.1338C>T (p.Ala446=)
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644
NM_001040716.2(PC):c.1353C>T (p.Arg451=) rs542353629
NM_001040716.2(PC):c.136+8C>T
NM_001040716.2(PC):c.136+9C>G
NM_001040716.2(PC):c.136+9C>T rs749948216
NM_001040716.2(PC):c.1368+7G>C
NM_001040716.2(PC):c.1369-4G>A
NM_001040716.2(PC):c.1369-7C>T
NM_001040716.2(PC):c.1369-9G>A
NM_001040716.2(PC):c.137-6C>T
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
NM_001040716.2(PC):c.1395G>T (p.Val465=)
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237
NM_001040716.2(PC):c.1425T>C (p.Thr475=)
NM_001040716.2(PC):c.1431C>T (p.Asp477=) rs746568602
NM_001040716.2(PC):c.1443C>T (p.Ile481=) rs375389054
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535
NM_001040716.2(PC):c.1458G>A (p.Glu486=)
NM_001040716.2(PC):c.1461G>A (p.Leu487=)
NM_001040716.2(PC):c.1479A>G (p.Ala493=)
NM_001040716.2(PC):c.1485C>T (p.Asn495=)
NM_001040716.2(PC):c.1503G>A (p.Leu501=) rs200108233
NM_001040716.2(PC):c.1513+10G>A rs200660481
NM_001040716.2(PC):c.1513+9C>T
NM_001040716.2(PC):c.1514-6C>T rs745563711
NM_001040716.2(PC):c.1514-9T>C
NM_001040716.2(PC):c.1518T>C (p.His506=)
NM_001040716.2(PC):c.1519G>A (p.Val507Ile) rs555210692
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836
NM_001040716.2(PC):c.1545G>A (p.Pro515=)
NM_001040716.2(PC):c.1551C>T (p.Pro517=) rs140746469
NM_001040716.2(PC):c.1560C>A (p.Ala520=) rs1591125381
NM_001040716.2(PC):c.1575G>A (p.Thr525=)
NM_001040716.2(PC):c.1575G>T (p.Thr525=)
NM_001040716.2(PC):c.1581C>G (p.Pro527=)
NM_001040716.2(PC):c.1581C>T (p.Pro527=) rs570919766
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734
NM_001040716.2(PC):c.159C>T (p.Phe53=) rs749641310
NM_001040716.2(PC):c.1604-6C>T
NM_001040716.2(PC):c.1604-9C>T
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169
NM_001040716.2(PC):c.1614G>A (p.Pro538=) rs35235415
NM_001040716.2(PC):c.1620T>C (p.Gly540=)
NM_001040716.2(PC):c.1650T>C (p.Pro550=)
NM_001040716.2(PC):c.1668T>G (p.Ala556=)
NM_001040716.2(PC):c.1672C>A (p.Arg558=)
NM_001040716.2(PC):c.1683G>T (p.Pro561=) rs113071273
NM_001040716.2(PC):c.1690C>T (p.Leu564=)
NM_001040716.2(PC):c.1701C>T (p.Asp567=) rs376240725
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388
NM_001040716.2(PC):c.1704G>A (p.Thr568=) rs549934922
NM_001040716.2(PC):c.1716C>T (p.Asp572=)
NM_001040716.2(PC):c.1719C>T (p.Ala573=)
NM_001040716.2(PC):c.171G>A (p.Thr57=)
NM_001040716.2(PC):c.1722C>T (p.His574=)
NM_001040716.2(PC):c.1755C>T (p.His585=)
NM_001040716.2(PC):c.1770C>T (p.Ile590=)
NM_001040716.2(PC):c.1826-5T>C
NM_001040716.2(PC):c.1826-6G>A
NM_001040716.2(PC):c.1833G>A (p.Thr611=) rs138796998
NM_001040716.2(PC):c.1839C>T (p.Asp613=)
NM_001040716.2(PC):c.1842C>T (p.Val614=) rs142817472
NM_001040716.2(PC):c.1851C>T (p.Arg617=)
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln)
NM_001040716.2(PC):c.1896G>A (p.Glu632=) rs745438957
NM_001040716.2(PC):c.1899C>A (p.Leu633=)
NM_001040716.2(PC):c.1930C>A (p.Arg644=)
NM_001040716.2(PC):c.1932G>C (p.Arg644=) rs1591122081
NM_001040716.2(PC):c.1944T>C (p.Ala648=)
NM_001040716.2(PC):c.1971C>T (p.Asn657=)
NM_001040716.2(PC):c.1974G>C (p.Val658=) rs745327162
NM_001040716.2(PC):c.1983-7C>G
NM_001040716.2(PC):c.1983-9C>T
NM_001040716.2(PC):c.2019C>T (p.Val673=) rs1591119887
NM_001040716.2(PC):c.2031T>C (p.Phe677=)
NM_001040716.2(PC):c.2034C>T (p.Asp678=)
NM_001040716.2(PC):c.2040C>T (p.Leu680=)
NM_001040716.2(PC):c.2076G>A (p.Ala692=) rs753064456
NM_001040716.2(PC):c.2085T>C (p.Ser695=)
NM_001040716.2(PC):c.2124C>T (p.Gly708=) rs200488501
NM_001040716.2(PC):c.2127C>T (p.Asp709=) rs768324552
NM_001040716.2(PC):c.2133C>T (p.Ala711=)
NM_001040716.2(PC):c.2139C>T (p.Pro713=)
NM_001040716.2(PC):c.2151G>A (p.Lys717=) rs1591119216
NM_001040716.2(PC):c.2154C>T (p.Tyr718=) rs1293856380
NM_001040716.2(PC):c.2160G>A (p.Leu720=)
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.216G>C (p.Thr72=)
NM_001040716.2(PC):c.2181C>T (p.Ala727=)
NM_001040716.2(PC):c.2205C>T (p.Thr735=)
NM_001040716.2(PC):c.2211C>T (p.Ile737=)
NM_001040716.2(PC):c.2214G>A (p.Leu738=) rs202134233
NM_001040716.2(PC):c.2224-16_2224-9dup
NM_001040716.2(PC):c.2224-4C>T rs750993796
NM_001040716.2(PC):c.2226C>T (p.Asp742=)
NM_001040716.2(PC):c.2232C>G (p.Ala744=)
NM_001040716.2(PC):c.2232C>T (p.Ala744=) rs763631086
NM_001040716.2(PC):c.2250G>A (p.Thr750=)
NM_001040716.2(PC):c.2265G>T (p.Leu755=)
NM_001040716.2(PC):c.2268C>T (p.Val756=) rs183729868
NM_001040716.2(PC):c.2274C>A (p.Ser758=)
NM_001040716.2(PC):c.228C>T (p.His76=)
NM_001040716.2(PC):c.2292C>T (p.Pro764=)
NM_001040716.2(PC):c.2298C>A (p.Leu766=)
NM_001040716.2(PC):c.2304G>C (p.Leu768=) rs61731787
NM_001040716.2(PC):c.2319C>T (p.His773=)
NM_001040716.2(PC):c.2325G>A (p.Thr775=) rs371093155
NM_001040716.2(PC):c.2355C>T (p.Ala785=) rs1591117204
NM_001040716.2(PC):c.2379G>A (p.Val793=)
NM_001040716.2(PC):c.2409G>A (p.Gly803=)
NM_001040716.2(PC):c.2424C>G (p.Pro808=)
NM_001040716.2(PC):c.2469C>T (p.Asp823=) rs145654496
NM_001040716.2(PC):c.2473+8G>A rs371135064
NM_001040716.2(PC):c.2474-5T>C
NM_001040716.2(PC):c.2478G>C (p.Val826=)
NM_001040716.2(PC):c.2493G>A (p.Val831=)
NM_001040716.2(PC):c.24T>C (p.His8=)
NM_001040716.2(PC):c.2505T>C (p.Ser835=)
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179
NM_001040716.2(PC):c.2574C>T (p.Asn858=)
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375
NM_001040716.2(PC):c.258C>T (p.Ile86=)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2637C>T (p.His879=)
NM_001040716.2(PC):c.2646G>A (p.Gly882=)
NM_001040716.2(PC):c.264C>T (p.Arg88=) rs757830976
NM_001040716.2(PC):c.2652C>T (p.Gly884=)
NM_001040716.2(PC):c.2679C>T (p.Ala893=)
NM_001040716.2(PC):c.2691C>T (p.Ala897=)
NM_001040716.2(PC):c.2703G>A (p.Leu901=)
NM_001040716.2(PC):c.2718+8C>T
NM_001040716.2(PC):c.2718+9G>A rs201942341
NM_001040716.2(PC):c.2718+9G>C
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.2724G>A (p.Thr908=) rs573985170
NM_001040716.2(PC):c.2727C>T (p.Pro909=)
NM_001040716.2(PC):c.2730C>T (p.Ser910=)
NM_001040716.2(PC):c.2739C>T (p.Ile913=) rs145489836
NM_001040716.2(PC):c.2745G>A (p.Gly915=)
NM_001040716.2(PC):c.2748C>T (p.Asp916=) rs149689543
NM_001040716.2(PC):c.2754C>T (p.Ala918=)
NM_001040716.2(PC):c.2766G>A (p.Val922=) rs1591113979
NM_001040716.2(PC):c.276C>T (p.Pro92=)
NM_001040716.2(PC):c.2776T>C (p.Leu926=)
NM_001040716.2(PC):c.2787A>G (p.Ala929=)
NM_001040716.2(PC):c.2793C>T (p.Ala931=)
NM_001040716.2(PC):c.2805G>A (p.Ala935=)
NM_001040716.2(PC):c.2829C>T (p.Ser943=) rs769867981
NM_001040716.2(PC):c.2838G>A (p.Glu946=)
NM_001040716.2(PC):c.2844G>A (p.Leu948=)
NM_001040716.2(PC):c.2868T>C (p.His956=)
NM_001040716.2(PC):c.2880C>T (p.Pro960=) rs549991937
NM_001040716.2(PC):c.2886C>T (p.Pro962=) rs780732004
NM_001040716.2(PC):c.2898+10G>C
NM_001040716.2(PC):c.2899-9G>A rs372755874
NM_001040716.2(PC):c.2899-9G>C
NM_001040716.2(PC):c.2899-9G>T
NM_001040716.2(PC):c.289C>T (p.Leu97=)
NM_001040716.2(PC):c.2922G>A (p.Val974=)
NM_001040716.2(PC):c.2976G>A (p.Lys992=)
NM_001040716.2(PC):c.2997G>A (p.Gly999=)
NM_001040716.2(PC):c.3009G>A (p.Thr1003=) rs377272205
NM_001040716.2(PC):c.3012G>A (p.Pro1004=) rs112030121
NM_001040716.2(PC):c.3024C>T (p.Leu1008=)
NM_001040716.2(PC):c.3030A>G (p.Ala1010=) rs1591112523
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=)
NM_001040716.2(PC):c.3060C>T (p.Phe1020=)
NM_001040716.2(PC):c.3069C>T (p.Phe1023=) rs753587788
NM_001040716.2(PC):c.3072T>C (p.Thr1024=)
NM_001040716.2(PC):c.3078C>T (p.Thr1026=)
NM_001040716.2(PC):c.3084C>A (p.Gly1028=)
NM_001040716.2(PC):c.3117G>A (p.Leu1039=)
NM_001040716.2(PC):c.3117G>T (p.Leu1039=)
NM_001040716.2(PC):c.3147+7G>C
NM_001040716.2(PC):c.3148-10C>T rs772718644
NM_001040716.2(PC):c.3148-4G>C
NM_001040716.2(PC):c.3154C>T (p.Leu1052=)
NM_001040716.2(PC):c.3171G>A (p.Thr1057=) rs147550265
NM_001040716.2(PC):c.3177C>T (p.His1059=)
NM_001040716.2(PC):c.3192C>T (p.Ala1064=)
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly) rs149583113
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
NM_001040716.2(PC):c.322-8A>G
NM_001040716.2(PC):c.3225G>A (p.Gln1075=)
NM_001040716.2(PC):c.3240C>T (p.Leu1080=) rs1591110612
NM_001040716.2(PC):c.3246G>A (p.Gly1082=)
NM_001040716.2(PC):c.3249G>A (p.Gln1083=)
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125
NM_001040716.2(PC):c.3262T>C (p.Leu1088=)
NM_001040716.2(PC):c.3288+8C>T
NM_001040716.2(PC):c.3288+9T>A
NM_001040716.2(PC):c.3289-10G>C rs529411023
NM_001040716.2(PC):c.3318G>A (p.Lys1106=)
NM_001040716.2(PC):c.3321C>T (p.Asp1107=)
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) rs776196411
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731
NM_001040716.2(PC):c.3357G>A (p.Lys1119=)
NM_001040716.2(PC):c.3378G>A (p.Val1126=)
NM_001040716.2(PC):c.3378G>C (p.Val1126=)
NM_001040716.2(PC):c.3384G>A (p.Gly1128=)
NM_001040716.2(PC):c.3387C>G (p.Ala1129=) rs761578681
NM_001040716.2(PC):c.3405G>A (p.Gln1135=)
NM_001040716.2(PC):c.3414T>C (p.Cys1138=)
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252
NM_001040716.2(PC):c.345C>T (p.His115=)
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302
NM_001040716.2(PC):c.3489C>G (p.Thr1163=)
NM_001040716.2(PC):c.3501A>G (p.Thr1167=)
NM_001040716.2(PC):c.3513C>T (p.Asp1171=) rs763623526
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.354C>T (p.Tyr118=) rs756061375
NM_001040716.2(PC):c.357G>A (p.Gly119=)
NM_001040716.2(PC):c.375G>A (p.Ala125=)
NM_001040716.2(PC):c.381C>T (p.Phe127=)
NM_001040716.2(PC):c.39C>G (p.Leu13=)
NM_001040716.2(PC):c.426C>T (p.Ser142=)
NM_001040716.2(PC):c.435G>A (p.Val145=)
NM_001040716.2(PC):c.440G>A (p.Arg147His) rs748987495
NM_001040716.2(PC):c.462G>A (p.Glu154=)
NM_001040716.2(PC):c.465C>G (p.Ala155=)
NM_001040716.2(PC):c.465C>T (p.Ala155=)
NM_001040716.2(PC):c.474C>T (p.Ile158=) rs767537673
NM_001040716.2(PC):c.495C>T (p.Pro165=)
NM_001040716.2(PC):c.516C>T (p.Ala172=)
NM_001040716.2(PC):c.525G>A (p.Thr175=)
NM_001040716.2(PC):c.525G>C (p.Thr175=)
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038
NM_001040716.2(PC):c.552C>T (p.Ser184=) rs1591188749
NM_001040716.2(PC):c.561C>T (p.Tyr187=) rs145333590
NM_001040716.2(PC):c.571A>G (p.Ile191Val) rs141543771
NM_001040716.2(PC):c.576C>A (p.Ile192=)
NM_001040716.2(PC):c.585G>T (p.Ala195=)
NM_001040716.2(PC):c.60C>T (p.Ser20=) rs1591192392
NM_001040716.2(PC):c.615G>A (p.Arg205=)
NM_001040716.2(PC):c.630C>T (p.Tyr210=)
NM_001040716.2(PC):c.633+38_633+58del rs1213292231
NM_001040716.2(PC):c.634-10G>A
NM_001040716.2(PC):c.634-4G>T
NM_001040716.2(PC):c.63C>T (p.Thr21=)
NM_001040716.2(PC):c.642G>A (p.Glu214=)
NM_001040716.2(PC):c.66C>T (p.Ala22=)
NM_001040716.2(PC):c.678C>T (p.Ala226=)
NM_001040716.2(PC):c.696G>A (p.Ala232=)
NM_001040716.2(PC):c.69C>T (p.Pro23=)
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312
NM_001040716.2(PC):c.717C>T (p.Ile239=)
NM_001040716.2(PC):c.720G>A (p.Glu240=)
NM_001040716.2(PC):c.735C>T (p.Ile245=)
NM_001040716.2(PC):c.741G>A (p.Val247=)
NM_001040716.2(PC):c.747C>T (p.Ile249=)
NM_001040716.2(PC):c.752-4C>A
NM_001040716.2(PC):c.752-4C>T
NM_001040716.2(PC):c.752-5C>T rs770994083
NM_001040716.2(PC):c.752-8C>T
NM_001040716.2(PC):c.765G>C (p.Gly255=)
NM_001040716.2(PC):c.768C>T (p.Asn256=)
NM_001040716.2(PC):c.774G>C (p.Leu258=)
NM_001040716.2(PC):c.783C>T (p.Tyr261=)
NM_001040716.2(PC):c.78C>A (p.Ser26=)
NM_001040716.2(PC):c.795C>T (p.Cys265=)
NM_001040716.2(PC):c.837C>T (p.Pro279=)
NM_001040716.2(PC):c.840C>T (p.Ala280=) rs376393322
NM_001040716.2(PC):c.843C>T (p.Ala281=) rs150040684
NM_001040716.2(PC):c.855G>A (p.Pro285=) rs200478006
NM_001040716.2(PC):c.87C>A (p.Val29=)
NM_001040716.2(PC):c.885T>C (p.Ser295=)
NM_001040716.2(PC):c.888G>A (p.Val296=)
NM_001040716.2(PC):c.894C>T (p.Leu298=)
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332
NM_001040716.2(PC):c.918C>T (p.Asn306=) rs372125858
NM_001040716.2(PC):c.921A>C (p.Ala307=)
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650
NM_001040716.2(PC):c.948G>A (p.Arg316=)
NM_001040716.2(PC):c.954C>G (p.Gly318=)
NM_001040716.2(PC):c.969C>T (p.Ile323=)
NM_001040716.2(PC):c.975C>G (p.Val325=) rs374244283
NM_001040716.2(PC):c.987G>A (p.Leu329=)

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