List of variants in gene PAX2 reported as pathogenic for not provided

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.119_120del (p.Arg40fs)	rs886037754
NM_000278.5(PAX2):c.187G>A (p.Gly63Ser)	rs886037755
NM_000278.5(PAX2):c.223_224dup (p.Gly76fs)	rs886037757
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.343C>T (p.Arg115Ter)	rs1845412705
NM_000278.5(PAX2):c.34_43+26delinsTGT	rs2133823607
NM_000278.5(PAX2):c.364_365dup (p.Ile123fs)	rs1589813731
NM_000278.5(PAX2):c.410+1G>A
NM_000278.5(PAX2):c.58_64dup (p.Gln22fs)	rs886037756
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	rs76492282
NM_000278.5(PAX2):c.69del (p.Val26fs)
NM_000278.5(PAX2):c.71G>A (p.Gly24Glu)
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	rs78122364

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