ClinVar Miner

List of variants reported as likely pathogenic for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000246.3(CIITA):c.2657+1G>A
NM_000246.3(CIITA):c.338dup (p.Leu114fs) rs1596513253
NM_000449.3(RFX5):c.556-2A>G rs1571260171
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285

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