ClinVar Miner

List of variants reported as pathogenic for Buschke-Ollendorff syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
LEMD3, 1-BP DUP, 1185T
LEMD3, 1-BP DUP, 2154A
LEMD3, 3-BP DEL/1-BP INS
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter) rs1565799131
NM_014319.5(LEMD3):c.2564G>A (p.Trp855Ter) rs267607216

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