ClinVar Miner

List of variants reported as benign for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E by Invitae

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ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_022489.4(INF2):c.1949+16A>G rs11850821 0.21385
NM_022489.4(INF2):c.2775+15C>T rs73347508 0.06749
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser) rs34251364 0.05864
NM_022489.4(INF2):c.843+16C>T rs118017785 0.05808
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455 0.03433
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.2571C>T (p.Ser857=) rs62640005 0.01396
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.391+17G>A rs4074531 0.01087
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086 0.00779
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.3078C>T (p.Ser1026=) rs377023270 0.00272
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249 0.00248
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311 0.00242
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427 0.00214
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_022489.4(INF2):c.3694+13G>C rs776214809 0.00163
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449 0.00150
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244 0.00134
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594 0.00116
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.2138+12C>T rs186410473 0.00051
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113 0.00036
NM_022489.4(INF2):c.3747G>A (p.Gln1249=) rs149939482 0.00036
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_022489.4(INF2):c.2187C>T (p.Ala729=) rs766576610 0.00029
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.1197C>T (p.His399=) rs746493706 0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.2053-13C>T rs753775095 0.00009
NM_022489.4(INF2):c.2254C>T (p.Arg752Cys) rs749405096 0.00006
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066 0.00005
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932 0.00004
NM_022489.4(INF2):c.3694+16G>A rs556924432 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022489.4(INF2):c.1592C>T (p.Ala531Val) rs200386025 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022489.4(INF2):c.580G>A (p.Val194Met) rs368298329 0.00003
NM_022489.4(INF2):c.1615G>A (p.Val539Met) rs769014945 0.00002
NM_022489.4(INF2):c.1182C>T (p.Cys394=) rs755392580 0.00001
NM_022489.4(INF2):c.2775+16G>A rs753203154 0.00001
NM_022489.4(INF2):c.2839G>A (p.Glu947Lys) rs1182433339 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.2942G>A (p.Arg981Lys) rs764912111 0.00001
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile) rs746392134 0.00001
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser) rs555680535 0.00001
NM_022489.4(INF2):c.559G>A (p.Gly187Ser) rs772603803 0.00001
NM_022489.4(INF2):c.610G>A (p.Val204Ile) rs1049200069 0.00001
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.1005G>A (p.Glu335=)
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del) rs573567814
NM_022489.4(INF2):c.1347G>A (p.Val449=)
NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1624G>A (p.Val542Met) rs1271026146
NM_022489.4(INF2):c.2052+17del
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2331C>T (p.Ala777=)
NM_022489.4(INF2):c.2334C>T (p.Asp778=)
NM_022489.4(INF2):c.2517G>A (p.Glu839=) rs561061092
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.285C>T (p.Ala95=)
NM_022489.4(INF2):c.2893G>T (p.Gly965Trp) rs370783381
NM_022489.4(INF2):c.2919C>T (p.Ile973=)
NM_022489.4(INF2):c.2977C>T (p.Arg993Cys)
NM_022489.4(INF2):c.3081G>A (p.Thr1027=)
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3632G>T (p.Arg1211Leu) rs754263906
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys) rs779017318
NM_022489.4(INF2):c.384C>T (p.Leu128=) rs536296013
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.392-13_392-9dup rs775575983
NM_022489.4(INF2):c.630C>T (p.Asp210=)
NM_022489.4(INF2):c.6G>A (p.Ser2=)
NM_022489.4(INF2):c.997A>C (p.Thr333Pro)

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