ClinVar Miner

List of variants in gene NHP2 studied for anemia (disease)

Included ClinVar conditions (263):
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Total variants: 17
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HGVS dbSNP
NM_017838.3(NHP2):c.109C>T (p.Pro37Ser) rs201390429
NM_017838.3(NHP2):c.143A>G (p.Tyr48Cys)
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.160+4A>C rs1419452406
NM_017838.3(NHP2):c.190G>A (p.Val64Met) rs79031130
NM_017838.3(NHP2):c.195_196AG[1] (p.Glu66fs) rs1333837047
NM_017838.3(NHP2):c.19G>C (p.Asp7His)
NM_017838.3(NHP2):c.230+3dup
NM_017838.3(NHP2):c.233T>A (p.Ile78Asn)
NM_017838.3(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.3(NHP2):c.267_270del (p.Glu89fs)
NM_017838.3(NHP2):c.270A>G (p.Val90=) rs148179279
NM_017838.3(NHP2):c.289A>G (p.Met97Val)
NM_017838.3(NHP2):c.290T>C (p.Met97Thr)
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017838.3(NHP2):c.67A>G (p.Thr23Ala)
NM_017838.3(NHP2):c.72C>T (p.Tyr24=) rs202221169

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