ClinVar Miner

List of variants reported as uncertain significance for Brooke-Spiegler syndrome by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.1684+3A>C rs886040878
NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro) rs886040877
NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp) rs886040880
NM_001378743.1(CYLD):c.1950-5_1950-2del rs886040881
NM_001378743.1(CYLD):c.2041G>C (p.Asp681His) rs886040883
NM_001378743.1(CYLD):c.2342T>C (p.Leu781Pro) rs886040889

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