ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) rs202161021
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe)
NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe)
NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn)
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577
NM_014319.5(LEMD3):c.1350A>G (p.Glu450=)
NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala)
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys)
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) rs146896083
NM_014319.5(LEMD3):c.39G>A (p.Ser13=)
NM_014319.5(LEMD3):c.750C>T (p.Val250=) rs148964879
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys) rs35221558

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