ClinVar Miner

List of variants in gene ACTN4 studied for Focal segmental glomerulosclerosis 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) rs3745859 0.39136
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) rs1136956 0.20720
NM_004924.6(ACTN4):c.1442+64C>T rs77822825 0.14962
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) rs11553600 0.14941
NM_004924.6(ACTN4):c.278-98G>A rs73038909 0.14725
NM_004924.6(ACTN4):c.1291+81C>T rs7248577 0.05857
NM_004924.6(ACTN4):c.734-54C>T rs12984794 0.05568
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) rs12986337 0.05559
NM_004924.6(ACTN4):c.1551+49C>T rs62120068 0.05547
NM_004924.6(ACTN4):c.398-16C>T rs2287728 0.05415
NM_004924.6(ACTN4):c.652-37G>A rs45561939 0.04930
NM_004924.6(ACTN4):c.652-55G>T rs56737532 0.04927
NM_004924.6(ACTN4):c.820-94C>T rs2306196 0.03870
NM_004924.6(ACTN4):c.246C>T (p.Leu82=) rs77307137 0.02544
NM_004924.6(ACTN4):c.484+75C>T rs2368475 0.02543
NM_004924.6(ACTN4):c.1442+72C>T rs2306197 0.01470
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_004924.6(ACTN4):c.369C>T (p.Gly123=) rs140381330 0.00875
NM_004924.6(ACTN4):c.1998G>A (p.Gln666=) rs145474119 0.00666
NM_004924.6(ACTN4):c.1611G>A (p.Ala537=) rs150183570 0.00498
NM_004924.6(ACTN4):c.2401G>A (p.Val801Met) rs141727248 0.00403
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_004924.6(ACTN4):c.1692+10C>G rs199619802 0.00300
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_004924.6(ACTN4):c.978G>A (p.Gln326=) rs117392350 0.00253
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=) rs139575917 0.00232
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=) rs144388375 0.00222
NM_004924.6(ACTN4):c.738C>T (p.Ile246=) rs34491236 0.00115
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=) rs137985903 0.00110
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_004924.6(ACTN4):c.2316G>A (p.Ala772=) rs192382222 0.00048
NM_004924.6(ACTN4):c.2011-5C>T rs372743117 0.00041
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=) rs147922933 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_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110 0.00029
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_004924.6(ACTN4):c.1712A>G (p.Asp571Gly) rs367745869 0.00021
NM_004924.6(ACTN4):c.1291+4C>T rs201704771 0.00018
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=) rs202127035 0.00018
NM_004924.6(ACTN4):c.894C>T (p.Tyr298=) rs568574676 0.00016
NM_004924.6(ACTN4):c.2641G>A (p.Ala881Thr) rs148628123 0.00015
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=) rs139162351 0.00013
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=) rs372396071 0.00011
NM_004924.6(ACTN4):c.928C>T (p.Arg310Trp) rs756003995 0.00010
NM_004924.6(ACTN4):c.1868G>T (p.Trp623Leu) rs368256210 0.00006
NM_004924.6(ACTN4):c.2191-4G>A rs371779934 0.00006
NM_004924.6(ACTN4):c.2620G>A (p.Asp874Asn) rs753091185 0.00006
NM_004924.6(ACTN4):c.55G>T (p.Gly19Cys) rs372129305 0.00006
NM_004924.6(ACTN4):c.1840G>A (p.Val614Ile) rs564122319 0.00005
NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=) rs372458891 0.00004
NM_004924.6(ACTN4):c.1750C>T (p.Arg584Cys) rs376144793 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_004924.6(ACTN4):c.2671G>A (p.Ala891Thr) rs370231267 0.00004
NM_004924.6(ACTN4):c.932G>A (p.Arg311His) rs559700598 0.00004
NM_004924.6(ACTN4):c.1276G>A (p.Glu426Lys) rs752949932 0.00003
NM_004924.6(ACTN4):c.240C>T (p.Asp80=) rs1179808544 0.00003
NM_004924.6(ACTN4):c.2410G>A (p.Asp804Asn) rs750429771 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_004924.6(ACTN4):c.1607G>A (p.Arg536His) rs1388506902 0.00001
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=) rs200269395 0.00001
NM_004924.6(ACTN4):c.190C>G (p.Leu64Val) rs1478339393 0.00001
NM_004924.6(ACTN4):c.2011-4G>A rs377158228 0.00001
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) rs759055242 0.00001
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) rs754477143 0.00001
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) rs121908415 0.00001
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) rs779765397 0.00001
NM_004924.6(ACTN4):c.163-9C>T
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg) rs1968240092
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser) rs777000965
NM_004924.6(ACTN4):c.2418+28A>G rs12981131
NM_004924.6(ACTN4):c.2670C>A (p.Asp890Glu) rs113969422
NM_004924.6(ACTN4):c.277+29G>C rs2112649
NM_004924.6(ACTN4):c.283C>T (p.Arg95Trp)
NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_004924.6(ACTN4):c.584G>A (p.Gly195Asp) rs878853159
NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)
NM_004924.6(ACTN4):c.652-34G>T rs58197765
NM_004924.6(ACTN4):c.719T>C (p.Met240Thr) rs1114167420
NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)
NM_004924.6(ACTN4):c.776C>T (p.Thr259Ile) rs121908416
NM_004924.6(ACTN4):c.784T>C (p.Ser262Pro) rs121908417

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.