ClinVar Miner

List of variants in gene NT5C3A reported as pathogenic for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter) rs753346459 0.00001
NM_001002010.5(NT5C3A):c.631C>T (p.Gln211Ter) rs104894026 0.00001
NM_001002010.5(NT5C3A):c.671A>G (p.Asn224Ser) rs104894028 0.00001
NM_001002010.5(NT5C3A):c.844_845dup (p.Val283fs) rs397518436 0.00001
NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs) rs397518437
NM_001002010.5(NT5C3A):c.645T>G (p.Tyr215Ter) rs104894027
NM_001002010.5(NT5C3A):c.679del (p.Asp227fs) rs397518438
NM_001002010.5(NT5C3A):c.694-1G>C rs397518435
NM_001002010.5(NT5C3A):c.694-1G>T rs397518435
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter) rs925502732
NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg) rs104894029

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