ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Baylor Genetics

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Total variants: 7
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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_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

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