List of variants in gene combination LOC130009575, 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.456G>C (p.Gln152His)	rs201926069	0.00026
NM_000538.4(RFXAP):c.573T>A (p.Thr191=)	rs200198351	0.00006
NM_000538.4(RFXAP):c.543G>C (p.Gln181His)	rs142778056	0.00005
NM_000538.4(RFXAP):c.455A>G (p.Gln152Arg)	rs373832619	0.00001
NM_000538.4(RFXAP):c.503A>G (p.Lys168Arg)	rs1437034327	0.00001
NM_000538.4(RFXAP):c.457G>T (p.Val153Leu)	rs1323637306
NM_000538.4(RFXAP):c.467A>G (p.Gln156Arg)	rs1566318990
NM_000538.4(RFXAP):c.527AGA[2] (p.Lys178del)	rs1268345931
NM_000538.4(RFXAP):c.600+3A>T	rs372895488
NM_000538.4(RFXAP):c.600+5C>G

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