ClinVar Miner

List of variants reported as benign for Severe combined immunodeficiency due to DCLRE1C deficiency by Invitae

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Total variants: 12
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HGVS dbSNP
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896

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