ClinVar Miner

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

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Total variants: 37
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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.512C>G (p.Pro171Arg) rs35441642
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_002312.3(LIG4):c.*1035G>A rs10131
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*1081C>T rs113388531
NM_002312.3(LIG4):c.*129A>G rs3093767
NM_002312.3(LIG4):c.*131A>T rs3093768
NM_002312.3(LIG4):c.*204A>G rs3093769
NM_002312.3(LIG4):c.*54G>A rs2232643
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*685T>C
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*983G>A rs75642465
NM_002312.3(LIG4):c.-196G>A rs1805385
NM_002312.3(LIG4):c.-273C>T rs1805387
NM_002312.3(LIG4):c.-7C>T rs4987182
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639

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