ClinVar Miner

List of variants in gene DCLRE1C reported as likely benign for Omenn syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00085
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569 0.00006
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_001033855.3(DCLRE1C):c.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763

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