ClinVar Miner

List of variants reported as uncertain significance for Focal segmental glomerulosclerosis 1

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110 0.00029
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.2641G>A (p.Ala881Thr) rs148628123 0.00015
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.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.1750C>T (p.Arg584Cys) rs376144793 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.2410G>A (p.Asp804Asn) rs750429771 0.00003
NM_001025616.3(ARHGAP24):c.892C>T (p.Arg298Cys) rs143423680 0.00002
NM_004924.6(ACTN4):c.1607G>A (p.Arg536His) rs1388506902 0.00001
NM_004924.6(ACTN4):c.190C>G (p.Leu64Val) rs1478339393 0.00001
NM_004924.6(ACTN4):c.497A>G (p.Lys166Arg) rs754477143 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.1826A>G (p.Asn609Ser) rs777000965
NM_004924.6(ACTN4):c.283C>T (p.Arg95Trp)
NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)
NM_004924.6(ACTN4):c.719T>C (p.Met240Thr) rs1114167420
NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)
NM_020401.4(NUP107):c.1781G>A (p.Cys594Tyr) rs1877805683

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