List of variants reported as pathogenic for Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency by OMIM

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Total variants: 10

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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.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.823G>C (p.Gly275Arg)	rs104894029

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