ClinVar Miner

List of variants studied for severe combined immunodeficiency due to DCLRE1C deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.1061+1G>A
NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)
NM_001033855.3(DCLRE1C):c.1299A>G (p.Pro433=)
NM_001033855.3(DCLRE1C):c.1299_1306del (p.Gly434fs)
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter) rs2131778656
NM_001033855.3(DCLRE1C):c.1307delinsAGGATGCT (p.Cys436Ter)
NM_001033855.3(DCLRE1C):c.350C>A (p.Pro117Gln)
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001033855.3(DCLRE1C):c.99C>G (p.His33Gln)
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5979_5982del (p.Lys1994fs)
NM_001374828.1(ARID1B):c.6300del (p.Lys2100fs)

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