List of variants in gene DCLRE1C reported as likely pathogenic for Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001033855.3(DCLRE1C):c.109+1G>T	rs143144732	0.00003
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)	rs1190921257	0.00003
NM_001033855.3(DCLRE1C):c.247-2A>G	rs2131027694	0.00003
NM_001033855.3(DCLRE1C):c.465-2A>C	rs1839625956	0.00001
NM_001033855.3(DCLRE1C):c.1774del (p.Glu592fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)	rs759377639
NM_001033855.3(DCLRE1C):c.306+2T>A	rs2131026813
NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg)
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)	rs1839956628
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)	rs747171418
NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter)
NM_001033855.3(DCLRE1C):c.640dup (p.Tyr214fs)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121

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