ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
NM_001040716.2(PC):c.1705A>G (p.Thr569Ala) rs113994144
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu) rs119103242
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) rs28940589
NM_001040716.2(PC):c.184C>T (p.Arg62Cys) rs113994141
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) rs113994146
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) rs28940590
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) rs756355930
NM_001040716.2(PC):c.2540C>T (p.Ala847Val) rs113994147
NM_001040716.2(PC):c.2581del (p.Val861fs)
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957
NM_001040716.2(PC):c.2876dup (p.Glu961fs) rs1565209327
NM_001040716.2(PC):c.2953del (p.Leu985fs)
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
NM_001040716.2(PC):c.3288+1G>T
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.372_375del (p.Ala125fs) rs1565245427
NM_001040716.2(PC):c.434T>C (p.Val145Ala) rs28940591
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001040716.2(PC):c.796T>A (p.Ser266Thr) rs113994142
PC, 2-BP DEL, 2491GT
PC, IVS15, 4-BP DEL, TAGG, +2-5

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