ClinVar Miner

List of variants in gene ACTN4 studied for familial nephrotic syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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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.1149C>G (p.Ile383Met)
NM_004924.6(ACTN4):c.1315C>T (p.Arg439Trp)
NM_004924.6(ACTN4):c.163-9C>T
NM_004924.6(ACTN4):c.175T>C (p.Trp59Arg) rs1968240092
NM_004924.6(ACTN4):c.1768A>G (p.Ile590Val) rs865815931
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser) rs777000965
NM_004924.6(ACTN4):c.2418+28A>G rs12981131
NM_004924.6(ACTN4):c.2577+5G>A
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.517T>C (p.Cys173Arg)
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.655G>A (p.Asp219Asn)
NM_004924.6(ACTN4):c.718A>G (p.Met240Val)
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

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