ClinVar Miner

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

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.109+176G>A rs3814176 0.64311
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001193424.2(SUV39H2):c.850-305C>T rs60006238 0.08419
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_001033855.3(DCLRE1C):c.781-17C>G rs41298886 0.04519
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670 0.00272
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993 0.00222
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695 0.00051
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051
NM_001033855.3(DCLRE1C):c.537+20C>A rs199843069 0.00044
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_001033855.3(DCLRE1C):c.1435C>T (p.Leu479=) rs764005111 0.00007
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00006
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 0.00001
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_001033855.3(DCLRE1C):c.110-17del
NM_001033855.3(DCLRE1C):c.162-16dup
NM_001033855.3(DCLRE1C):c.465-16dup rs1478774298
NM_001033855.3(DCLRE1C):c.918-14del rs1333161578

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