List of variants studied for MHC class II deficiency by Baylor Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr)	rs199476070	0.00009
NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys)	rs762687010	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_000246.4(CIITA):c.1552G>C (p.Ala518Pro)	rs866050153
NM_000246.4(CIITA):c.2377C>G (p.Leu793Val)	rs34082539
NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly)	rs867193240
NM_000538.4(RFXAP):c.2T>C (p.Met1Thr)	rs2057953200
NM_000538.4(RFXAP):c.419C>T (p.Thr140Ile)	rs2057955904
NM_003721.4(RFXANK):c.271+1delinsTCAC	rs2060611603
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709
NM_003721.4(RFXANK):c.713-1G>A	rs2060720733

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