ClinVar Miner

List of variants studied for familial hemolytic anemia by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679

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