ClinVar Miner

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

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
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.507+7G>A rs201568246 0.00095
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
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.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.306C>T (p.Val102=) rs748335660 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.744C>T (p.Phe248=) rs372799744 0.00012
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.2053-16G>A rs371712402 0.00011
NM_022489.4(INF2):c.2367G>A (p.Thr789=) rs368194536 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.844-6G>A rs370399987 0.00011
NM_022489.4(INF2):c.1458C>T (p.Phe486=) rs1420347614 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_022489.4(INF2):c.2622G>A (p.Ser874=) rs374311535 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_022489.4(INF2):c.2879-10C>T rs534732317 0.00006
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867 0.00006
NM_022489.4(INF2):c.2879-9G>A rs373139405 0.00005
NM_022489.4(INF2):c.1293T>C (p.Pro431=) rs758725838 0.00004
NM_022489.4(INF2):c.1725C>T (p.Asn575=) rs368235032 0.00004
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_022489.4(INF2):c.1965C>T (p.Val655=) rs752090814 0.00002
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437 0.00002
NM_022489.4(INF2):c.255G>T (p.Ser85=) rs369037445 0.00002
NM_022489.4(INF2):c.2802G>A (p.Ala934=) rs768008674 0.00002
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn) rs201180682 0.00002
NM_022489.4(INF2):c.372C>T (p.Tyr124=) rs368077298 0.00002
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1299C>T (p.Ser433=) rs1431857911 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.2103C>T (p.Ala701=) rs369998116 0.00001
NM_022489.4(INF2):c.2553G>A (p.Glu851=) rs368901958 0.00001
NM_022489.4(INF2):c.2775+12C>T rs200236783 0.00001
NM_022489.4(INF2):c.3054C>T (p.Asn1018=) rs983208436 0.00001
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=) rs771664996 0.00001
NM_022489.4(INF2):c.489C>T (p.Asp163=) rs769080446 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 0.00001
NM_022489.4(INF2):c.1950-10C>A rs199987321
NM_022489.4(INF2):c.1950-20C>T rs370726873
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
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.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3694+12_3694+15del rs766461452
NM_022489.4(INF2):c.392-13_392-9dup rs775575983

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