List of variants reported as likely pathogenic for MHC class II deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	rs1313207845	0.00002
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)	rs2138212278
NM_000538.4(RFXAP):c.600+1G>T
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.555+1G>C	rs367771361
NM_001025603.2(RFX5):c.859-2A>G

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