ClinVar Miner

List of variants in gene G6PC reported as likely 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: 34
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HGVS dbSNP
NM_000151.4(G6PC):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC):c.136del (p.Leu46fs) rs1057517227
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.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC):c.230+1G>C rs863224023
NM_000151.4(G6PC):c.231-1G>A rs1555559279
NM_000151.4(G6PC):c.323C>T (p.Thr108Ile)
NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000151.4(G6PC):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC):c.446+1G>C
NM_000151.4(G6PC):c.446+2T>C
NM_000151.4(G6PC):c.447-1G>A rs1411037881
NM_000151.4(G6PC):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC):c.518T>C (p.Leu173Pro)
NM_000151.4(G6PC):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC):c.980_982del (p.Phe327del) rs80356486

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