List of variants reported as benign for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.909A>C (p.Pro303=)	rs1800898	0.40586
NM_000278.5(PAX2):c.798C>T (p.Asn266=)	rs1800897	0.12916
NM_000278.5(PAX2):c.792+9G>A	rs79552202	0.00974
NM_000278.5(PAX2):c.360C>T (p.Ala120=)	rs41291450	0.00270
NM_000278.5(PAX2):c.213-8C>T	rs369615430	0.00101
NM_000278.5(PAX2):c.819G>C (p.Leu273=)	rs144433354	0.00090
NM_000278.5(PAX2):c.212+12G>A	rs546505132	0.00048
NM_000278.5(PAX2):c.963C>T (p.His321=)	rs138750534	0.00024
NM_000278.5(PAX2):c.213-5C>T	rs767757944	0.00007
NM_000278.5(PAX2):c.1021+193G>A	rs145911423	0.00006
NM_000278.5(PAX2):c.920-12G>A	rs775815946	0.00006
NM_000278.5(PAX2):c.43+13G>T	rs763464165	0.00003
NM_000278.5(PAX2):c.1021+141C>A	rs530216201	0.00001
NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)
NM_000278.5(PAX2):c.43+10G>C	rs4472867
NM_000278.5(PAX2):c.846G>A (p.Ser282=)

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