ClinVar Miner

List of variants in gene PC studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
Download table as spreadsheet
HGVS dbSNP
NM_001040716.2(PC):c.*101G>A
NM_001040716.2(PC):c.*106G>T
NM_001040716.2(PC):c.*15G>A rs45501894
NM_001040716.2(PC):c.*161C>T rs886048554
NM_001040716.2(PC):c.*164dup rs762257488
NM_001040716.2(PC):c.*185G>A rs573667993
NM_001040716.2(PC):c.*188G>A
NM_001040716.2(PC):c.*203T>C rs886048553
NM_001040716.2(PC):c.*353A>G rs557595819
NM_001040716.2(PC):c.*373C>T rs189863040
NM_001040716.2(PC):c.*43C>T rs751861809
NM_001040716.2(PC):c.*88G>A
NM_001040716.2(PC):c.*89G>A
NM_001040716.2(PC):c.-272G>A
NM_001040716.2(PC):c.-274A>C rs192495346
NM_001040716.2(PC):c.-282G>A rs886048558
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1-4C>A
NM_001040716.2(PC):c.1020C>G (p.Thr340=) rs201344655
NM_001040716.2(PC):c.1020C>T (p.Thr340=)
NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1023-14_1023-6del
NM_001040716.2(PC):c.1023-4A>G
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
NM_001040716.2(PC):c.1050C>T (p.His350=) rs770612085
NM_001040716.2(PC):c.1054G>T (p.Ala352Ser) rs1051704
NM_001040716.2(PC):c.1074C>T (p.Pro358=)
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
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.1150G>A (p.Ala384Thr) rs1464614105
NM_001040716.2(PC):c.1152G>A (p.Ala384=)
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
NM_001040716.2(PC):c.1173C>T (p.Thr391=) rs202135326
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1185+7G>A
NM_001040716.2(PC):c.1221G>A (p.Leu407=) rs771046930
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
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.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1353C>T (p.Arg451=) rs542353629
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
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+11G>A rs371731636
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1368+7G>C
NM_001040716.2(PC):c.1369-1G>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.1409A>G (p.Gln470Arg)
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.1480C>T (p.Gln494Ter)
NM_001040716.2(PC):c.1485C>T (p.Asn495=)
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997
NM_001040716.2(PC):c.1503G>A (p.Leu501=) rs200108233
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490
NM_001040716.2(PC):c.1513+10G>A rs200660481
NM_001040716.2(PC):c.1513+13del rs755170894
NM_001040716.2(PC):c.1513+14C>T
NM_001040716.2(PC):c.1513+6G>A
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1513+9C>T
NM_001040716.2(PC):c.1514-13G>A
NM_001040716.2(PC):c.1514-2A>G
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.1524G>A (p.Met508Ile)
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.1604-17G>A rs79317761
NM_001040716.2(PC):c.1604-6C>T
NM_001040716.2(PC):c.1604-9C>T
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066
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.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1650T>C (p.Pro550=)
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
NM_001040716.2(PC):c.1668T>G (p.Ala556=)
NM_001040716.2(PC):c.1672C>A (p.Arg558=)
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273
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.1705A>G (p.Thr569Ala) rs113994144
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.1748G>T (p.Arg583Leu) rs119103242
NM_001040716.2(PC):c.1755C>T (p.His585=)
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
NM_001040716.2(PC):c.1770C>T (p.Ile590=)
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1825+3A>C
NM_001040716.2(PC):c.1826-5T>C
NM_001040716.2(PC):c.1826-6G>A
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897
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.184C>T (p.Arg62Cys) rs113994141
NM_001040716.2(PC):c.1851C>T (p.Arg617=)
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln)
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
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.2000A>C (p.Lys667Thr)
NM_001040716.2(PC):c.2019C>A (p.Val673=)
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.2114C>A (p.Ser705Ter) rs113994146
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.2142C>G (p.Ser714Arg)
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
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.2156_2159del (p.Ser719fs)
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.2223+19C>T rs45457699
NM_001040716.2(PC):c.2224-14C>T
NM_001040716.2(PC):c.2224-16_2224-9dup
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2224-4C>T rs750993796
NM_001040716.2(PC):c.2224-9T>G rs45560936
NM_001040716.2(PC):c.2226C>T (p.Asp742=)
NM_001040716.2(PC):c.2227A>G (p.Met743Val) rs1591118129
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_001040716.2(PC):c.2232C>G (p.Ala744=)
NM_001040716.2(PC):c.2232C>T (p.Ala744=) rs763631086
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751
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.227A>T (p.His76Leu) rs7104156
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
NM_001040716.2(PC):c.2286C>G (p.Arg762=) rs1051707
NM_001040716.2(PC):c.228C>T (p.His76=)
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
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.2328_2329del (p.Ala778fs)
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.2423C>A (p.Pro808His) rs1591116883
NM_001040716.2(PC):c.2424C>G (p.Pro808=)
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
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.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.24T>C (p.His8=)
NM_001040716.2(PC):c.2505T>C (p.Ser835=)
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326
NM_001040716.2(PC):c.2540C>T (p.Ala847Val) rs113994147
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
NM_001040716.2(PC):c.2574C>T (p.Asn858=)
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036
NM_001040716.2(PC):c.2581del (p.Val861fs)
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
NM_001040716.2(PC):c.258C>T (p.Ile86=)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745
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.2667G>C (p.Glu889Asp)
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957
NM_001040716.2(PC):c.2679C>T (p.Ala893=)
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397
NM_001040716.2(PC):c.2691C>T (p.Ala897=)
NM_001040716.2(PC):c.2703G>A (p.Leu901=)
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) rs886048555
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
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.2723C>T (p.Thr908Met) rs796052032
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.2783G>A (p.Arg928Gln)
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
NM_001040716.2(PC):c.2787A>G (p.Ala929=)
NM_001040716.2(PC):c.2793C>T (p.Ala931=)
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331
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.2856C>T (p.Ile952=) rs183661331
NM_001040716.2(PC):c.2868T>C (p.His956=)
NM_001040716.2(PC):c.2874G>T (p.Gly958=) rs1131855
NM_001040716.2(PC):c.2876dup (p.Glu961fs) rs1565209327
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.2953del (p.Leu985fs)
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.2976G>A (p.Lys992=)
NM_001040716.2(PC):c.2997G>A (p.Gly999=)
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
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.3034A>G (p.Met1012Val)
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=)
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
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.3102dup (p.Thr1035fs)
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.3117G>A (p.Leu1039=)
NM_001040716.2(PC):c.3117G>T (p.Leu1039=)
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3147+7G>C
NM_001040716.2(PC):c.3148-10C>T rs772718644
NM_001040716.2(PC):c.3148-14C>T
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.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.321+5G>A rs200766019
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly) rs149583113
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
NM_001040716.2(PC):c.322-10C>T rs371834866
NM_001040716.2(PC):c.322-8A>G
NM_001040716.2(PC):c.3225G>A (p.Gln1075=)
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
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+1G>T
NM_001040716.2(PC):c.3288+5T>C
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.3306dup (p.Lys1103fs)
NM_001040716.2(PC):c.3318G>A (p.Lys1106=)
NM_001040716.2(PC):c.331G>A (p.Val111Ile) rs753573264
NM_001040716.2(PC):c.3321C>T (p.Asp1107=)
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) rs776196411
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731
NM_001040716.2(PC):c.3357G>A (p.Lys1119=)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
NM_001040716.2(PC):c.3378G>A (p.Val1126=)
NM_001040716.2(PC):c.3378G>C (p.Val1126=)
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
NM_001040716.2(PC):c.3384G>A (p.Gly1128=)
NM_001040716.2(PC):c.3387C>G (p.Ala1129=) rs761578681
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
NM_001040716.2(PC):c.3405G>A (p.Gln1135=)
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.3414T>C (p.Cys1138=)
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
NM_001040716.2(PC):c.345C>T (p.His115=)
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp) rs373287823
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302
NM_001040716.2(PC):c.3489C>G (p.Thr1163=)
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
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.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
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.434T>C (p.Val145Ala) rs28940591
NM_001040716.2(PC):c.435G>A (p.Val145=)
NM_001040716.2(PC):c.440G>A (p.Arg147His) rs748987495
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
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.467G>A (p.Arg156Gln) rs119103241
NM_001040716.2(PC):c.474C>T (p.Ile158=) rs767537673
NM_001040716.2(PC):c.485C>T (p.Ala162Val) rs752714051
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378
NM_001040716.2(PC):c.495C>T (p.Pro165=)
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341
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.52C>T (p.Arg18Ter) 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.563G>T (p.Gly188Val)
NM_001040716.2(PC):c.571A>G (p.Ile191Val) rs141543771
NM_001040716.2(PC):c.576C>A (p.Ile192=)
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
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.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.630C>T (p.Tyr210=)
NM_001040716.2(PC):c.633+2T>C rs763433647
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.634-5C>T
NM_001040716.2(PC):c.63C>T (p.Thr21=)
NM_001040716.2(PC):c.642G>A (p.Glu214=)
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
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.751+13G>A
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.75C>T (p.Ala25=) rs886048557
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.786G>T (p.Glu262Asp) rs200030109
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.78C>A (p.Ser26=)
NM_001040716.2(PC):c.795C>T (p.Cys265=)
NM_001040716.2(PC):c.796T>A (p.Ser266Thr) rs113994142
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.837C>T (p.Pro279=)
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
NM_001040716.2(PC):c.840C>T (p.Ala280=) rs376393322
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
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.85G>A (p.Val29Ile) rs45471099
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461
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.903+2T>A
NM_001040716.2(PC):c.904-11C>T
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.951C>T (p.His317=) rs142309583
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=)
NM_022172.2(PC):c.[2095G>A];[2095G>T]
PC, 2-BP DEL, 2491GT
PC, IVS15, 4-BP DEL, TAGG, +2-5

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.