ClinVar Miner

List of variants in gene PC reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP
NM_001040716.2(PC):c.*101G>A
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.-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.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105
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.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.1266C>T (p.Tyr422=)
NM_001040716.2(PC):c.1368+11G>A rs371731636
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490
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.1514-13G>A
NM_001040716.2(PC):c.1514-6C>T rs745563711
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
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.1832C>T (p.Thr611Met) rs757071897
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)
NM_001040716.2(PC):c.2019C>A (p.Val673=)
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
NM_001040716.2(PC):c.2224-14C>T
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2227A>G (p.Met743Val) rs1591118129
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
NM_001040716.2(PC):c.2423C>A (p.Pro808His) rs1591116883
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
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.2667G>C (p.Glu889Asp)
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.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331
NM_001040716.2(PC):c.2899-9G>A rs372755874
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.3148-14C>T
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3288+5T>C
NM_001040716.2(PC):c.331G>A (p.Val111Ile) rs753573264
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
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.3496A>G (p.Met1166Val)
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
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.496G>A (p.Val166Ile) rs147697454
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312
NM_001040716.2(PC):c.751+13G>A
NM_001040716.2(PC):c.75C>T (p.Ala25=) rs886048557
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.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332
NM_001040716.2(PC):c.904-11C>T
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650

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