ClinVar Miner

List of variants in gene combination AK1, ST6GALNAC4-ST6GALNAC6-AK1 reported as benign for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_000476.3(AK1):c.516+11C>A rs115263629

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