List of variants in gene PAX2 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)	rs79555199
NM_000278.5(PAX2):c.240_244dup (p.Val82fs)	rs1554856034
NM_000278.5(PAX2):c.331G>A (p.Ala111Thr)
NM_000278.5(PAX2):c.364_365dup (p.Ile123fs)	rs1589813731
NM_000278.5(PAX2):c.410+1G>A
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234

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