ClinVar Miner

List of variants reported as uncertain significance 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: 48
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HGVS dbSNP gnomAD frequency
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.*1925G>T rs144538196 0.00037
NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe) rs768667554 0.00021
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.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.-6G>A rs747864180 0.00001
NM_014319.5(LEMD3):c.1101C>T (p.Leu367=) rs1386658293 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.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.*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.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

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