ClinVar Miner

List of variants in gene NT5C3A reported as benign for anemia

Included ClinVar conditions (281):
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_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=) rs72555744 0.02171
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_001002010.5(NT5C3A):c.139-9060del rs143513903

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