List of variants reported as pathogenic for Focal segmental glomerulosclerosis 7

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	rs587777708
NM_000278.5(PAX2):c.212+1G>T	rs2492893824
NM_000278.5(PAX2):c.223_226dup (p.Gly76fs)
NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)	rs1845410479
NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)	rs1481932003
NM_000278.5(PAX2):c.383_384del (p.Thr128fs)	rs2492900237
NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)	rs1131692055
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	rs76492282
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234

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