ClinVar Miner

List of variants in gene INF2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492 0.02373
NM_022489.4(INF2):c.391+18A>T rs115458897 0.02077
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_022489.4(INF2):c.*10C>T rs142710295 0.00580
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00532
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975 0.00483
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_022489.4(INF2):c.*16C>T rs199912466 0.00058
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 0.00034
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297 0.00009
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2043G>A (p.Glu681=) rs776591878 0.00004
NM_022489.4(INF2):c.2765G>A (p.Arg922His) rs749197190 0.00004
NM_022489.4(INF2):c.2311-4C>G rs371953149 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347 0.00003
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2490-15C>A rs775068618 0.00001
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.720C>T (p.Asp240=) rs1243280313 0.00001
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_022489.4(INF2):c.1274C>T (p.Pro425Leu) rs1555374270
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.2281A>T (p.Ile761Phe) rs2140682868
NM_022489.4(INF2):c.257G>T (p.Gly86Val) rs1566777637
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3541C>T (p.Pro1181Ser) rs1890210513

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