ClinVar Miner

List of variants reported as pathogenic for MHC class II deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000016.10:g.(?_10877311)_(10923323_?)del
NM_000246.3(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.922C>T (p.Arg308Ter) rs567218474
NM_000449.3(RFX5):c.312dup (p.Asp105Ter) rs1571262081
NM_000449.3(RFX5):c.609del (p.Ala204fs) rs1571260017
NM_000538.3(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)
NM_003721.4(RFXANK):c.271_271+1insCTGCC rs1568578781

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