ClinVar Miner

List of variants studied for Rheumatoid arthritis; MHC class II deficiency 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys) rs772224355 0.00001
NM_000246.4(CIITA):c.199+1G>A rs777089127 0.00001
NM_000246.4(CIITA):c.2290del (p.Gln764fs) rs1064794659
NM_000246.4(CIITA):c.2382_2439delinsTGTATTCAGGTACCCAA (p.Lys794fs)
NM_000246.4(CIITA):c.338dup (p.Leu114fs) rs1596513253
NM_000246.4(CIITA):c.378A>C (p.Glu126Asp)
NM_000246.4(CIITA):c.492del (p.Thr165fs)
NM_000246.4(CIITA):c.628+1G>A
NM_000246.4(CIITA):c.632del (p.Pro211fs) rs2144580551

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