ClinVar Miner

List of variants in gene NT5C3A studied for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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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.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.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.342dup (p.Cys115fs) rs2127996432
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs) rs397518437
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.645T>G (p.Tyr215Ter) rs104894027
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.679del (p.Asp227fs) rs397518438
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936
NM_001002010.5(NT5C3A):c.694-1G>C rs397518435
NM_001002010.5(NT5C3A):c.694-1G>T rs397518435
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter) rs925502732
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg) rs104894029
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)

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