List of variants reported as pathogenic for Renal coloboma syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.*7C>A	rs1848626159
NM_000278.5(PAX2):c.131_152del (p.Leu44fs)	rs76675173
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	rs387906530
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)	rs79555199
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)	rs922533851
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)	rs1845412705
NM_000278.5(PAX2):c.409A>T (p.Arg137Ter)
NM_000278.5(PAX2):c.493_495delinsTCTTCCCTGA (p.Ile165fs)	rs1846531969
NM_000278.5(PAX2):c.497-1G>A	rs1846609262
NM_000278.5(PAX2):c.561del (p.Asn188fs)	rs77777862
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	rs76492282
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)	rs75399846
NM_000278.5(PAX2):c.756_792+4del	rs2133950547
NM_000278.5(PAX2):c.75_76dup (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.76del (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	rs78122364
PAX2, 6-BP DEL

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