List of variants in gene RFXAP reported as likely benign for MHC class II deficiency

Minimum submission review status:		Collection method:
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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.*479G>A	rs117112761	0.00251
NM_000538.4(RFXAP):c.354G>C (p.Ser118=)	rs113555392	0.00220
NM_000538.4(RFXAP):c.*1194A>G	rs11539183	0.00175
NM_000538.4(RFXAP):c.756A>G (p.Gln252=)	rs141918438	0.00087
NM_000538.4(RFXAP):c.711G>A (p.Ser237=)	rs760354012	0.00013
NM_000538.4(RFXAP):c.297G>C (p.Pro99=)	rs183370317	0.00005
NM_000538.4(RFXAP):c.699A>G (p.Gln233=)	rs202180471	0.00002
NM_000538.4(RFXAP):c.222G>A (p.Leu74=)	rs1460528998	0.00001
NM_000538.4(RFXAP):c.333A>G (p.Leu111=)	rs1310252099	0.00001
NM_000538.4(RFXAP):c.345G>A (p.Glu115=)	rs1303614696	0.00001
NM_000538.4(RFXAP):c.672T>C (p.Pro224=)	rs866409620	0.00001
NM_000538.4(RFXAP):c.708+13T>C	rs1159381746	0.00001
NM_000538.4(RFXAP):c.738A>G (p.Gln246=)	rs557694029	0.00001
NM_000538.4(RFXAP):c.180C>T (p.Ala60=)
NM_000538.4(RFXAP):c.276G>T (p.Leu92=)	rs1593529954
NM_000538.4(RFXAP):c.297G>A (p.Pro99=)
NM_000538.4(RFXAP):c.303A>G (p.Gly101=)
NM_000538.4(RFXAP):c.306C>A (p.Gly102=)	rs772207747
NM_000538.4(RFXAP):c.306C>T (p.Gly102=)
NM_000538.4(RFXAP):c.359G>T (p.Gly120Val)	rs199978715
NM_000538.4(RFXAP):c.606T>C (p.Ser202=)
NM_000538.4(RFXAP):c.708+13_708+16del
NM_000538.4(RFXAP):c.708+7_708+8del	rs2138217454
NM_000538.4(RFXAP):c.709-16T>G	rs2138218937
NM_000538.4(RFXAP):c.732A>G (p.Val244=)
NM_000538.4(RFXAP):c.765A>G (p.Leu255=)

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