List of variants reported as pathogenic for MHC class II deficiency 1 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.2888+1G>A	rs372826934	0.00003
NM_000246.4(CIITA):c.3317+1G>A	rs771073292	0.00001
NM_000246.4(CIITA):c.1141G>T (p.Glu381Ter)	rs137852602
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter)	rs863223293
NM_000246.4(CIITA):c.2890_2969+1del	rs1555507411
NM_000246.4(CIITA):c.3080_3082del (p.Ile1027del)	rs2145057679
NM_000246.4(CIITA):c.929del (p.Asn310fs)	rs2544432143

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