ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) rs199781223 0.00127
NM_004924.6(ACTN4):c.1174C>G (p.Gln392Glu) rs143174736 0.00074
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_016341.4(PLCE1):c.6640G>A (p.Asp2214Asn) rs373489516 0.00022
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly) rs2016645859
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691

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