ClinVar Miner

List of variants studied for MHC class II deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.859-2A>G

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