ClinVar Miner

List of variants studied for familial hemolytic anemia by Johns Hopkins Genomics, Johns Hopkins 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.292G>A (p.Val98Met) rs1050828 0.03616
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
G6PD NARA rs587776730
NM_000342.4(SLC4A1):c.2655+2_2655+3del

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