ClinVar Miner

List of variants in gene NT5C3A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 20
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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.91T>C (p.Phe31Leu) rs72555707 0.01571
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.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001002010.5(NT5C3A):c.139-9025G>T rs149839373 0.00020
NM_001002010.5(NT5C3A):c.354+6C>A rs572060959 0.00013
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val) rs104894025 0.00002
NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr) rs780736989 0.00002
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936

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