ClinVar Miner

List of variants reported as benign for Buschke-Ollendorff syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014319.5(LEMD3):c.*1880C>T rs2888 0.29482
NM_014319.5(LEMD3):c.336C>T (p.Ala112=) rs61736594 0.06852
NM_014319.5(LEMD3):c.1523-12C>T rs11175678 0.06186
NM_014319.5(LEMD3):c.1695+8A>G rs6581621 0.04099
NM_014319.5(LEMD3):c.*655C>T rs12302249 0.04091
NM_014319.5(LEMD3):c.*1635G>A rs12304180 0.04089
NM_014319.5(LEMD3):c.2658G>A (p.Lys886=) rs17101179 0.02008
NM_014319.5(LEMD3):c.*902G>A rs145080926 0.01949
NM_014319.5(LEMD3):c.*1156G>A rs11175698 0.01279
NM_014319.5(LEMD3):c.378C>T (p.Ser126=) rs61736593 0.01276
NM_014319.5(LEMD3):c.2305+4T>C rs138310805 0.01019
NM_014319.5(LEMD3):c.*476C>T rs144515474 0.00510
NM_014319.5(LEMD3):c.*884A>G rs117029005 0.00452
NM_014319.5(LEMD3):c.*1901G>A rs12071 0.00335
NM_014319.5(LEMD3):c.*915G>T rs117013092 0.00270
NM_014319.5(LEMD3):c.*225A>G rs139476203 0.00252
NM_014319.5(LEMD3):c.*1481C>T rs113095916 0.00238
NM_014319.5(LEMD3):c.1560+10C>T rs144815611 0.00205
NM_014319.5(LEMD3):c.*1951C>T rs11175699 0.00049
NM_014319.5(LEMD3):c.948C>T (p.Leu316=) rs183253527 0.00047
NM_014319.5(LEMD3):c.*895T>C rs182177872 0.00001
NM_014319.5(LEMD3):c.*688T>C rs188087693
NM_014319.5(LEMD3):c.1628-11A>C rs6581620

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