ClinVar Miner

List of variants studied for inherited focal segmental glomerulosclerosis by 3billion

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp) rs2133833948
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg) rs1589848170
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.791del (p.Gln264fs) rs2133950639
NM_000278.5(PAX2):c.869del (p.Pro290fs) rs2133956351
NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs)
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) rs1591517921
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) rs1565221486
NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)
NM_022489.4(INF2):c.604A>G (p.Asn202Asp)
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183

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