ClinVar Miner

List of variants in gene H6PD reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp) rs387907167
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer) rs606231222
NM_004285.4(H6PD):c.325del (p.Arg109fs) rs398122818
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) rs398122817
NM_004285.4(H6PD):c.960G>A (p.Val320=) rs398122816

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