List of variants in gene RFX5 reported as pathogenic for MHC class II deficiency 3

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001025603.2(RFX5):c.234-1G>A	rs748270285	0.00022
NM_001025603.2(RFX5):c.433G>C (p.Asp145His)	rs999104857	0.00004
NM_001025603.2(RFX5):c.116+5G>A	rs556806561	0.00001
NM_001025603.2(RFX5):c.1032C>T (p.Ile344=)	rs1557831362
NM_001025603.2(RFX5):c.1239_1240del (p.Asn414fs)
NM_001025603.2(RFX5):c.1480dup (p.Gln494fs)	rs1571256140
NM_001025603.2(RFX5):c.151-1G>A	rs2102068023
NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)

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