ClinVar Miner

List of variants studied 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: 83
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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.907G>T (p.Gly303Cys) rs35221558 0.00085
NM_014319.5(LEMD3):c.*1394C>T rs186082338 0.00078
NM_014319.5(LEMD3):c.*576A>G rs527664684 0.00071
NM_014319.5(LEMD3):c.1350A>G (p.Glu450=) rs145116568 0.00069
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) rs146896083 0.00058
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.*1925G>T rs144538196 0.00037
NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe) rs139346096 0.00029
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577 0.00027
NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe) rs768667554 0.00021
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) rs202161021 0.00019
NM_014319.5(LEMD3):c.39G>A (p.Ser13=) rs373288363 0.00016
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe) rs139507581 0.00010
NM_014319.5(LEMD3):c.282C>G (p.Val94=) rs867412512 0.00009
NM_014319.5(LEMD3):c.345A>G (p.Pro115=) rs530591432 0.00008
NM_014319.5(LEMD3):c.1075G>A (p.Val359Ile) rs376822761 0.00007
NM_014319.5(LEMD3):c.882C>T (p.Leu294=) rs764393737 0.00006
NM_014319.5(LEMD3):c.*991A>G rs1440879515 0.00005
NM_014319.5(LEMD3):c.1720A>G (p.Ile574Val) rs374107839 0.00005
NM_014319.5(LEMD3):c.*5A>G rs753840503 0.00004
NM_014319.5(LEMD3):c.1108C>A (p.Pro370Thr) rs200288324 0.00004
NM_014319.5(LEMD3):c.1586A>G (p.Asn529Ser) rs151256200 0.00004
NM_014319.5(LEMD3):c.380C>T (p.Ala127Val) rs886049775 0.00004
NM_014319.5(LEMD3):c.*146A>G rs746798464 0.00003
NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn) rs768302841 0.00002
NM_014319.5(LEMD3):c.2573-13T>G rs766410078 0.00002
NM_014319.5(LEMD3):c.*1141A>G rs886049781 0.00001
NM_014319.5(LEMD3):c.*1439G>C rs753923821 0.00001
NM_014319.5(LEMD3):c.*1455T>C rs996842635 0.00001
NM_014319.5(LEMD3):c.*236G>A rs1399708939 0.00001
NM_014319.5(LEMD3):c.*388G>C rs1334677068 0.00001
NM_014319.5(LEMD3):c.*895T>C rs182177872 0.00001
NM_014319.5(LEMD3):c.-6G>A rs747864180 0.00001
NM_014319.5(LEMD3):c.1101C>T (p.Leu367=) rs1386658293 0.00001
NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala) rs376067130 0.00001
NM_014319.5(LEMD3):c.1705C>T (p.Pro569Ser) rs374655981 0.00001
NM_014319.5(LEMD3):c.1813A>G (p.Ile605Val) rs886049779 0.00001
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys) rs373577886 0.00001
NM_014319.5(LEMD3):c.501C>T (p.Tyr167=) rs958779954 0.00001
NM_014319.5(LEMD3):c.618G>A (p.Glu206=) rs770408327 0.00001
NM_014319.5(LEMD3):c.640G>T (p.Asp214Tyr) rs774803333 0.00001
NM_014319.5(LEMD3):c.673G>C (p.Glu225Gln) rs886049776 0.00001
NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala) rs886049773 0.00001
NM_014319.5(LEMD3):c.*1295G>A rs886049782
NM_014319.5(LEMD3):c.*1305T>G rs886049783
NM_014319.5(LEMD3):c.*1389G>T rs886049784
NM_014319.5(LEMD3):c.*1759G>T rs886049785
NM_014319.5(LEMD3):c.*388G>A rs1334677068
NM_014319.5(LEMD3):c.*688T>C rs188087693
NM_014319.5(LEMD3):c.*790G>C rs886049780
NM_014319.5(LEMD3):c.*899T>C rs1871141328
NM_014319.5(LEMD3):c.1027G>A (p.Gly343Arg) rs886049777
NM_014319.5(LEMD3):c.1058C>G (p.Pro353Arg) rs1868510817
NM_014319.5(LEMD3):c.1154C>G (p.Ser385Cys) rs372588607
NM_014319.5(LEMD3):c.1556T>G (p.Ile519Arg) rs1869919619
NM_014319.5(LEMD3):c.1627+12_1627+14del rs886049778
NM_014319.5(LEMD3):c.1628-11A>C rs6581620
NM_014319.5(LEMD3):c.1631A>C (p.Asp544Ala) rs774273011
NM_014319.5(LEMD3):c.2586A>G (p.Thr862=) rs754715782
NM_014319.5(LEMD3):c.2648C>A (p.Thr883Asn) rs962967741
NM_014319.5(LEMD3):c.28C>T (p.Gln10Ter) rs1565775031
NM_014319.5(LEMD3):c.29A>T (p.Gln10Leu) rs1355290688
NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly) rs886049774
NM_014319.5(LEMD3):c.750C>T (p.Val250=) rs148964879

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