ClinVar Miner

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

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ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001033855.3(DCLRE1C):c.1095G>A (p.Thr365=) rs766628291
NM_001033855.3(DCLRE1C):c.110-7T>G rs930637788
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.1764C>T (p.Ala588=) rs1588891334
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.375G>A (p.Gln125=) rs150951839
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.3(DCLRE1C):c.678+8G>A rs920315432
NM_001033855.3(DCLRE1C):c.679-6C>T rs201040496
NM_001033855.3(DCLRE1C):c.741A>G (p.Thr247=) rs369844484
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.3(DCLRE1C):c.789A>G (p.Glu263=) rs149039288
NM_001033855.3(DCLRE1C):c.798G>A (p.Gln266=) rs181619477
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099

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