ClinVar Miner

List of variants reported as pathogenic for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 by Invitae

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_102283594)_(102510668_?)del
NC_000010.10:g.(?_102566167)_(102566382_?)del
NM_000278.5(PAX2):c.115del (p.Gln39fs)
NM_000278.5(PAX2):c.117_121del (p.Gln39fs)
NM_000278.5(PAX2):c.225del (p.Gly76fs)
NM_000278.5(PAX2):c.227dup (p.Ser77fs)
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) rs1554856032
NM_000278.5(PAX2):c.242del (p.Gly81fs)
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.43+1G>A
NM_000278.5(PAX2):c.430C>T (p.Gln144Ter) rs2133894054
NM_000278.5(PAX2):c.483del (p.Gly162fs) rs2133894273
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.785C>A (p.Ser262Ter) rs2133950621
NM_000278.5(PAX2):c.792+2T>C
NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter) rs2133956435
NM_000278.5(PAX2):c.97del (p.Leu33fs)

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