List of variants in gene PAX2 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000278.5(PAX2):c.131_152del (p.Leu44fs)	rs76675173
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	rs587777708
NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)	rs104894170
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	rs387906530
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)	rs79555199
NM_000278.5(PAX2):c.561del (p.Asn188fs)	rs77777862
NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)	rs1131692055
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)	rs75399846
NM_000278.5(PAX2):c.75_76dup (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.76del (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs)	rs75462234
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	rs78122364
PAX2, 6-BP DEL

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