List of variants studied for MHC class II deficiency by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln)	rs752109217	0.00011
NM_000246.4(CIITA):c.1962dup (p.Gly655fs)	rs778982759
NM_000246.4(CIITA):c.2537A>G (p.His846Arg)
NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp)	rs1557830458
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	rs104894709

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