ClinVar Miner

List of variants reported as likely pathogenic for Focal segmental glomerulosclerosis

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.412dup (p.Met138fs) rs2125000621
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)
NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) rs1591517929
NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) rs1596861969
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430

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