ClinVar Miner

List of variants in gene NT5C3A reported as pathogenic for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001002010.2(NT5C3A):c.410A>T (p.Asp137Val) rs104894025
NM_001002010.2(NT5C3A):c.646C>T (p.Gln216Ter) rs104894026
NM_001002010.2(NT5C3A):c.660T>G (p.Tyr220Ter) rs104894027
NM_001002010.2(NT5C3A):c.686A>G (p.Asn229Ser) rs104894028
NM_001002010.2(NT5C3A):c.838G>C (p.Gly280Arg) rs104894029
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) rs397518437
NM_016489.12(NT5C3A):c.576del (p.Asp193Ilefs) rs397518438
NM_016489.12(NT5C3A):c.592-1G>C rs397518435
NM_016489.12(NT5C3A):c.592-1G>T rs397518435
NM_016489.12(NT5C3A):c.743_744insGG (p.Val249Glufs) rs397518436

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