List of variants in gene PAX2 reported as likely pathogenic for Renal coloboma syndrome; Focal segmental glomerulosclerosis 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000010.10:g.(?_102510431)_(102510668_?)del
NC_000010.10:g.(?_102539235)_(102569013_?)dup
NM_000278.5(PAX2):c.212+1G>T
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	rs387906530
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)	rs1554856032
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)	rs865906227
NM_000278.5(PAX2):c.44-2A>G
NM_000278.5(PAX2):c.483del (p.Gly162fs)	rs2133894273
NM_000278.5(PAX2):c.70G>A (p.Gly24Arg)	rs1845366198
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
NM_000278.5(PAX2):c.791del (p.Gln264fs)	rs2133950639

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