ClinVar Miner

List of variants reported as likely pathogenic for Buschke-Ollendorff syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014319.5(LEMD3):c.1594_1597del (p.Tyr532fs) rs1565791664
NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs) rs2136353868
NM_014319.5(LEMD3):c.1994A>G (p.Gln665Arg) rs2136354664
NM_014319.5(LEMD3):c.2371_2372del (p.Met791fs) rs1592464882

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