ClinVar Miner

List of variants reported as likely benign for Buschke-Ollendorff syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys) rs35221558 0.00085
NM_014319.5(LEMD3):c.1350A>G (p.Glu450=) rs145116568 0.00064
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) rs146896083 0.00060
NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe) rs139346096 0.00027
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577 0.00027
NM_014319.5(LEMD3):c.39G>A (p.Ser13=) rs373288363 0.00021
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) rs202161021 0.00019
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe) rs139507581 0.00010
NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn) rs768302841 0.00003
NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala) rs376067130 0.00003
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys) rs373577886 0.00001
NM_014319.5(LEMD3):c.750C>T (p.Val250=) rs148964879

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