List of variants in gene RFXANK reported as likely pathogenic 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_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.188-2del	rs2146483253
NM_003721.4(RFXANK):c.271+1G>C	rs759667201
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
NM_003721.4(RFXANK):c.460del (p.Ala154fs)	rs2060634316
NM_003721.4(RFXANK):c.481del (p.Leu161fs)	rs2146492780
NM_003721.4(RFXANK):c.564+2T>C

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