ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) rs397518437
NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) rs104894025
NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) rs104894026
NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) rs104894027
NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) rs104894028
NM_016489.13(NT5C3A):c.577del (p.Asp193fs) rs397518438
NM_016489.13(NT5C3A):c.592-1G>C rs397518435
NM_016489.13(NT5C3A):c.592-1G>T rs397518435
NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) rs104894029
NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) rs397518436

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