ClinVar Miner

List of variants in gene combination LOC130009574, RFXAP reported as likely benign 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys)	rs201754085	0.00009
NM_000538.4(RFXAP):c.402G>C (p.Gly134=)	rs1055112539	0.00001

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