ClinVar Miner

Variants in gene INF2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 70
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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.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439 0.00016
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr) rs533208785 0.00015
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser) rs767748953 0.00012
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_022489.4(INF2):c.3157G>A (p.Val1053Met) rs760721935 0.00008
NM_022489.4(INF2):c.1304C>T (p.Ala435Val) rs777455096 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys) rs369987125 0.00007
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551 0.00006
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln) rs375390523 0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys) rs755527335 0.00003
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met) rs760488958 0.00002
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639 0.00002
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg) rs747903915 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2390G>A (p.Arg797His) rs200261709 0.00001
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys) rs376094545 0.00001
NM_022489.4(INF2):c.2776-5T>C rs1442200771 0.00001
NM_022489.4(INF2):c.3041-4C>T rs945997134 0.00001
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg) rs762689516 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3224G>A (p.Arg1075His) rs370169829 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755 0.00001
NM_022489.4(INF2):c.787T>G (p.Ser263Ala) rs1364540701 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
NM_022489.4(INF2):c.2419-5T>C
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2]) rs748373029
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn) rs764338863
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.917G>A (p.Arg306His)

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