ClinVar Miner

List of variants reported as likely benign for inherited focal segmental glomerulosclerosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018685.5(ANLN):c.2971-12T>G rs6954957 0.01028
NM_004998.4(MYO1E):c.643-4C>T rs73422973 0.00956
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) rs61739601 0.00801
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_004998.4(MYO1E):c.1617-12C>G rs192317472 0.00636
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_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=) rs145459485 0.00334
NM_173689.7(CRB2):c.2817G>C (p.Leu939=) rs148565778 0.00240
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_004998.4(MYO1E):c.978G>A (p.Arg326=) rs141570155 0.00199
NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val) rs141247770 0.00189
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val) rs561402183 0.00178
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_173689.7(CRB2):c.606G>A (p.Leu202=) rs201174974 0.00130
NM_004998.4(MYO1E):c.147+14G>T rs183374173 0.00123
NM_004998.4(MYO1E):c.1616+17A>G rs138790400 0.00120
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
NM_000278.5(PAX2):c.213-8C>T rs369615430 0.00101
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly) rs141565214 0.00101
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000278.5(PAX2):c.819G>C (p.Leu273=) rs144433354 0.00090
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_004998.4(MYO1E):c.511-17C>T rs118012522 0.00071
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=) rs139243684 0.00052
NM_004998.4(MYO1E):c.669G>A (p.Gln223=) rs142105673 0.00049
NM_000278.5(PAX2):c.212+12G>A rs546505132 0.00048
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_004998.4(MYO1E):c.1530+14C>T rs116371817 0.00043
NM_004998.4(MYO1E):c.2878+19G>A rs200710336 0.00043
NM_004924.6(ACTN4):c.2011-5C>T rs372743117 0.00041
NM_000278.5(PAX2):c.354C>T (p.Leu118=) rs142934523 0.00040
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_004621.6(TRPC6):c.948T>C (p.Asn316=) rs139477687 0.00035
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=) rs147922933 0.00034
NM_004998.4(MYO1E):c.2335-13C>T rs775751894 0.00034
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=) rs146493523 0.00033
NM_004924.6(ACTN4):c.297G>A (p.Pro99=) rs144919593 0.00032
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_018685.5(ANLN):c.173-16A>G rs181560875 0.00031
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=) rs146652440 0.00030
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup) rs778276152 0.00029
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) rs144891994 0.00029
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_000278.5(PAX2):c.963C>T (p.His321=) rs138750534 0.00024
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=) rs143282009 0.00024
NM_004924.6(ACTN4):c.2673C>T (p.Ala891=) rs140419295 0.00022
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_004998.4(MYO1E):c.1805+7G>A rs561678142 0.00021
NM_004998.4(MYO1E):c.2628-8T>C rs373053697 0.00021
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=) rs144794852 0.00021
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu) rs34802652 0.00021
NM_004998.4(MYO1E):c.2164+12A>G rs187897054 0.00020
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=) rs202127035 0.00018
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_000278.5(PAX2):c.496+9G>T rs577483360 0.00016
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=) rs200987052 0.00015
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_004924.6(ACTN4):c.1902C>T (p.Asp634=) rs139162351 0.00013
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_000278.5(PAX2):c.411-11C>T rs541291517 0.00012
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744 0.00012
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) rs372396071 0.00011
NM_004998.4(MYO1E):c.3081-6C>T rs201630409 0.00011
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_004621.6(TRPC6):c.667A>G (p.Ile223Val) rs150033580 0.00010
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_004998.4(MYO1E):c.2298C>T (p.Phe766=) rs370612369 0.00007
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_000278.5(PAX2):c.528C>T (p.Ser176=) rs369240774 0.00006
NM_004924.6(ACTN4):c.2191-4G>A rs371779934 0.00006
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_004924.6(ACTN4):c.1458C>T (p.Tyr486=) rs372458891 0.00004
NM_004924.6(ACTN4):c.1806C>T (p.His602=) rs749089376 0.00004
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=) rs375763862 0.00004
NM_004998.4(MYO1E):c.1275+12C>G rs373603961 0.00004
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=) rs140388346 0.00004
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_000278.5(PAX2):c.954C>T (p.Tyr318=) rs78122364 0.00003
NM_004924.6(ACTN4):c.240C>T (p.Asp80=) rs1179808544 0.00003
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=) rs749956565 0.00003
NM_004924.6(ACTN4):c.2616C>T (p.Pro872=) rs747925584 0.00003
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=) rs149553440 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_004621.6(TRPC6):c.1294-4G>A rs190191809 0.00002
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_000278.5(PAX2):c.1021+137C>T rs1848496928 0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=) rs1386529275 0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=) rs201775091 0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=) rs746316295 0.00001
NM_004621.6(TRPC6):c.996C>T (p.Leu332=) rs200144852 0.00001
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=) rs200269395 0.00001
NM_004924.6(ACTN4):c.2011-4G>A rs377158228 0.00001
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=) rs774695459 0.00001
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_000278.5(PAX2):c.240G>A (p.Pro80=) rs576772135
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=) rs144085223
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) rs201818043
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC rs2140317179
NM_004998.4(MYO1E):c.2878+18C>T rs759274124
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.