List of variants in gene RFXANK studied for MHC class II deficiency 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003721.4(RFXANK):c.338-25_338del	rs776752313	0.00002
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)	rs779699696	0.00001
NM_003721.4(RFXANK):c.438+5G>A	rs1196984337	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)	rs751386365	0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)	rs747402973	0.00001
NM_003721.4(RFXANK):c.140del (p.Pro47fs)
NM_003721.4(RFXANK):c.163del (p.Asp55fs)
NM_003721.4(RFXANK):c.271+1G>C	rs759667201
NM_003721.4(RFXANK):c.272-2A>C
NM_003721.4(RFXANK):c.337+2_337+3del	rs1568579235
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709
NM_003721.4(RFXANK):c.419_438+38del	rs1568579997

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