ClinVar Miner

List of variants in gene NT5C3A reported as uncertain significance for hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr) rs780736989 0.00002
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)

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