List of variants in gene RFXANK reported as pathogenic for MHC class II deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.383del (p.Leu128fs)	rs770387882	0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)	rs778357787	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)	rs747402973	0.00001
NC_000019.9:g.(?_19304756)_(19304962_?)del
NM_003721.4(RFXANK):c.271+1G>C	rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC	rs2060611603
NM_003721.4(RFXANK):c.271_271+1insCTGCC	rs1568578781
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709
NM_003721.4(RFXANK):c.481del (p.Leu161fs)	rs2146492780
NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter)	rs2146493181
NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter)	rs1599784374
NM_003721.4(RFXANK):c.599_600del (p.Gly200fs)	rs2146496053
NM_003721.4(RFXANK):c.600del (p.Asn201fs)

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