List of variants reported as likely benign for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
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.354C>T (p.Leu118=)	rs142934523	0.00040
NM_000278.5(PAX2):c.963C>T (p.His321=)	rs138750534	0.00024
NM_000278.5(PAX2):c.496+9G>T	rs577483360	0.00016
NM_000278.5(PAX2):c.411-11C>T	rs541291517	0.00012
NM_000278.5(PAX2):c.528C>T (p.Ser176=)	rs369240774	0.00006
NM_000278.5(PAX2):c.954C>T (p.Tyr318=)	rs78122364	0.00003
NM_000278.5(PAX2):c.1021+137C>T	rs1848496928	0.00001
NM_000278.5(PAX2):c.450G>A (p.Thr150=)	rs1386529275	0.00001
NM_000278.5(PAX2):c.477C>T (p.Thr159=)	rs201775091	0.00001
NM_000278.5(PAX2):c.735T>C (p.Phe245=)	rs746316295	0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile)	rs770703982	0.00001
NM_000278.5(PAX2):c.1181A>C (p.His394Pro)
NM_000278.5(PAX2):c.240G>A (p.Pro80=)	rs576772135
NM_000278.5(PAX2):c.449C>T (p.Thr150Met)

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