List of variants in gene combination LOC130009574, RFXAP reported as uncertain significance for MHC class II deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.401G>A (p.Gly134Glu)	rs530562598	0.00004
NM_000538.4(RFXAP):c.397G>T (p.Gly133Cys)	rs751361768	0.00002
NM_000538.4(RFXAP):c.398G>T (p.Gly133Val)	rs936769962	0.00001
NM_000538.4(RFXAP):c.413G>A (p.Ser138Asn)	rs1555302500
NM_000538.4(RFXAP):c.419C>T (p.Thr140Ile)	rs2057955904
NM_000538.4(RFXAP):c.424A>G (p.Thr142Ala)

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