ClinVar Miner

Variants in gene DCLRE1C with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 0.00005
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187 0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=) rs191086777 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=) rs532892332 0.00002
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938

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