ClinVar Miner

List of variants in gene G6PC reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000151.4(G6PC):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC):c.230+4A>G rs587776757
NM_000151.4(G6PC):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC):c.262del (p.Val88fs)
NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000151.4(G6PC):c.388_400del (p.Met130fs) rs1567705064
NM_000151.4(G6PC):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC):c.551G>A (p.Gly184Glu) rs104894569
NM_000151.4(G6PC):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC):c.980_982del (p.Phe327del) rs80356486

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