ClinVar Miner

List of variants in gene INF2 reported as uncertain significance for not specified

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_022489.4(INF2):c.2599G>A (p.Glu867Lys) rs777850657 0.00006
NM_022489.4(INF2):c.2765G>A (p.Arg922His) rs749197190 0.00004
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347 0.00003
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met) rs760488958 0.00002
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.700C>T (p.Arg234Ter) rs750014286 0.00001
NM_022489.4(INF2):c.2019_2022del (p.Lys673fs) rs1060499868
NM_022489.4(INF2):c.2240-16C>T
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.3698T>C (p.Val1233Ala)
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del) rs1236644699
NM_022489.4(INF2):c.565G>A (p.Asp189Asn) rs753287786

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