ClinVar Miner

List of variants studied for anemia (disease) by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699

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