List of variants in gene DCLRE1C reported as likely pathogenic by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	rs1317003987	0.00001
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	rs2492399920
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	rs886037924
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	rs2131108640
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	rs1589136659
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	rs2492076708
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)	rs1839765652
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	rs773046452
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	rs969498121
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121

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