List of variants in gene LOC130009574, RFXAP studied for MHC class II deficiency

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.410T>C (p.Met137Thr)	rs193240312	0.01125
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys)	rs201754085	0.00009
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.402G>C (p.Gly134=)	rs1055112539	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)
NM_000538.4(RFXAP):c.429C>G (p.Tyr143Ter)

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