ClinVar Miner

List of variants in gene ACTN4 reported as likely benign for Focal segmental glomerulosclerosis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.2401G>A (p.Val801Met) rs141727248 0.00403
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=) rs148259739 0.00334
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu) rs149027682 0.00270
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=) rs138139611 0.00066
NM_004924.6(ACTN4):c.2191-5C>T rs186662077 0.00035
NM_004924.6(ACTN4):c.2010+9C>T rs202218981 0.00021
NM_004924.6(ACTN4):c.1229G>A (p.Arg410Gln)

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