ClinVar Miner

List of variants in gene G6PD 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: 14
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HGVS dbSNP
G6PD A-
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) rs137852328
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693

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