ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439 0.00016
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) rs368576387 0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807 0.00004
NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu) rs376222605 0.00004
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg) rs762096939 0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu) rs1375222598 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2005G>A (p.Val669Met) rs756038490 0.00002
NM_022489.4(INF2):c.1040G>A (p.Arg347Gln) rs1212221513 0.00001
NM_022489.4(INF2):c.1198G>A (p.Ala400Thr) rs1364649058 0.00001
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln) rs775331561 0.00001
NM_022489.4(INF2):c.2090A>T (p.Lys697Met) rs1256555211 0.00001
NM_022489.4(INF2):c.2150G>A (p.Arg717Gln) rs769493931 0.00001
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp) rs762706488 0.00001
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr) rs774099930 0.00001
NM_022489.4(INF2):c.2879-20G>C rs879254306 0.00001
NM_022489.4(INF2):c.2897A>G (p.Lys966Arg) rs879254296 0.00001
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592 0.00001
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr) rs200246759 0.00001
NM_022489.4(INF2):c.3494C>T (p.Ala1165Val) rs771044828 0.00001
NM_022489.4(INF2):c.3523G>A (p.Asp1175Asn) rs765901404 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro) rs761808106 0.00001
GRCh37/hg19 14q32.33(chr14:105173247-105177523)x1
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln) rs374769850
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1281_1283del (p.Pro428del) rs1566781582
NM_022489.4(INF2):c.1288C>T (p.Leu430Phe) rs1131691501
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1589del (p.Val530fs) rs879254321
NM_022489.4(INF2):c.1666C>T (p.Arg556Trp) rs879254313
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr) rs530285485
NM_022489.4(INF2):c.1810C>T (p.Arg604Ter) rs1260381635
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly) rs2140675983
NM_022489.4(INF2):c.1972A>T (p.Met658Leu)
NM_022489.4(INF2):c.2080G>A (p.Glu694Lys)
NM_022489.4(INF2):c.224A>G (p.Asp75Gly)
NM_022489.4(INF2):c.2281A>T (p.Ile761Phe) rs2140682868
NM_022489.4(INF2):c.2396C>T (p.Thr799Met)
NM_022489.4(INF2):c.257G>T (p.Gly86Val) rs1566777637
NM_022489.4(INF2):c.25C>A (p.Arg9Ser) rs1889485557
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3406T>A (p.Ser1136Thr)
NM_022489.4(INF2):c.3427G>A (p.Ala1143Thr)
NM_022489.4(INF2):c.3513_3518del (p.1171DE[2])
NM_022489.4(INF2):c.3530_3531insCGAAGA (p.1171_1172DE[4]) rs1566786530
NM_022489.4(INF2):c.3541C>T (p.Pro1181Ser) rs1890210513
NM_022489.4(INF2):c.3546G>T (p.Glu1182Asp)
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln) rs1064796974
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.3745del (p.Gln1249fs) rs1566787065
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.608C>A (p.Ala203Asp) rs1595166203
NM_022489.4(INF2):c.829T>C (p.Ser277Pro)
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)

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