ClinVar Miner

List of variants studied for familial hemolytic anemia by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751

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