List of variants in gene PAX5 reported as uncertain significance 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)	rs137870876	0.00063
NM_016734.3(PAX5):c.1126G>A (p.Ala376Thr)	rs528158465	0.00007
NM_016734.3(PAX5):c.907A>G (p.Thr303Ala)	rs772637243	0.00003
NM_016734.3(PAX5):c.45A>G (p.Thr15=)	rs1403953458	0.00001
NM_016734.3(PAX5):c.644C>T (p.Pro215Leu)	rs1220530661	0.00001
NM_016734.3(PAX5):c.854C>T (p.Thr285Ile)	rs79813621	0.00001
NM_016734.3(PAX5):c.1013-1G>A	rs1554646594
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter)	rs377685637
NM_016734.3(PAX5):c.1148C>T (p.Ala383Val)
NM_016734.3(PAX5):c.1163A>G (p.Tyr388Cys)	rs2493136114
NM_016734.3(PAX5):c.409A>T (p.Arg137Trp)
NM_016734.3(PAX5):c.638C>A (p.Ser213Ter)
NM_016734.3(PAX5):c.697C>A (p.Gln233Lys)	rs1416375120
NM_016734.3(PAX5):c.781-7403G>A
NM_016734.3(PAX5):c.809T>C (p.Leu270Pro)
NM_016734.3(PAX5):c.959C>G (p.Pro320Arg)	rs2131763339
NM_016734.3(PAX5):c.961C>A (p.Pro321Thr)

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