ClinVar Miner

List of variants studied for Buschke-Ollendorff syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_014319.5(LEMD3):c.*1141A>G rs886049781
NM_014319.5(LEMD3):c.*1156G>A rs11175698
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.*1394C>T
NM_014319.5(LEMD3):c.*1439G>C
NM_014319.5(LEMD3):c.*1455T>C
NM_014319.5(LEMD3):c.*146A>G rs746798464
NM_014319.5(LEMD3):c.*1481C>T rs113095916
NM_014319.5(LEMD3):c.*1635G>A rs12304180
NM_014319.5(LEMD3):c.*1759G>T rs886049785
NM_014319.5(LEMD3):c.*1880C>T rs2888
NM_014319.5(LEMD3):c.*1901G>A rs12071
NM_014319.5(LEMD3):c.*1925G>T
NM_014319.5(LEMD3):c.*1951C>T rs11175699
NM_014319.5(LEMD3):c.*225A>G rs139476203
NM_014319.5(LEMD3):c.*236G>A
NM_014319.5(LEMD3):c.*388G>A
NM_014319.5(LEMD3):c.*388G>C
NM_014319.5(LEMD3):c.*476C>T rs144515474
NM_014319.5(LEMD3):c.*576A>G rs527664684
NM_014319.5(LEMD3):c.*5A>G
NM_014319.5(LEMD3):c.*655C>T rs12302249
NM_014319.5(LEMD3):c.*688T>C rs188087693
NM_014319.5(LEMD3):c.*790G>C rs886049780
NM_014319.5(LEMD3):c.*884A>G rs117029005
NM_014319.5(LEMD3):c.*895T>C rs182177872
NM_014319.5(LEMD3):c.*899T>C
NM_014319.5(LEMD3):c.*902G>A rs145080926
NM_014319.5(LEMD3):c.*915G>T rs117013092
NM_014319.5(LEMD3):c.*991A>G
NM_014319.5(LEMD3):c.-6G>A rs747864180
NM_014319.5(LEMD3):c.1027G>A (p.Gly343Arg) rs886049777
NM_014319.5(LEMD3):c.1058C>G (p.Pro353Arg)
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) rs202161021
NM_014319.5(LEMD3):c.1075G>A (p.Val359Ile) rs376822761
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe)
NM_014319.5(LEMD3):c.1101C>T (p.Leu367=)
NM_014319.5(LEMD3):c.1108C>A (p.Pro370Thr)
NM_014319.5(LEMD3):c.1154C>G (p.Ser385Cys) rs372588607
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.1523-12C>T rs11175678
NM_014319.5(LEMD3):c.1556T>G (p.Ile519Arg)
NM_014319.5(LEMD3):c.1560+10C>T rs144815611
NM_014319.5(LEMD3):c.1586A>G (p.Asn529Ser)
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)
NM_014319.5(LEMD3):c.1695+8A>G rs6581621
NM_014319.5(LEMD3):c.1705C>T (p.Pro569Ser) rs374655981
NM_014319.5(LEMD3):c.1720A>G (p.Ile574Val) rs374107839
NM_014319.5(LEMD3):c.1813A>G (p.Ile605Val) rs886049779
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys)
NM_014319.5(LEMD3):c.2305+4T>C
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) rs146896083
NM_014319.5(LEMD3):c.2573-13T>G rs766410078
NM_014319.5(LEMD3):c.2586A>G (p.Thr862=)
NM_014319.5(LEMD3):c.2648C>A (p.Thr883Asn)
NM_014319.5(LEMD3):c.2658G>A (p.Lys886=) rs17101179
NM_014319.5(LEMD3):c.282C>G (p.Val94=) rs867412512
NM_014319.5(LEMD3):c.28C>T (p.Gln10Ter) rs1565775031
NM_014319.5(LEMD3):c.299A>T (p.Tyr100Phe)
NM_014319.5(LEMD3):c.29A>T (p.Gln10Leu)
NM_014319.5(LEMD3):c.336C>T (p.Ala112=) rs61736594
NM_014319.5(LEMD3):c.345A>G (p.Pro115=) rs530591432
NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly) rs886049774
NM_014319.5(LEMD3):c.378C>T (p.Ser126=) rs61736593
NM_014319.5(LEMD3):c.380C>T (p.Ala127Val) rs886049775
NM_014319.5(LEMD3):c.39G>A (p.Ser13=)
NM_014319.5(LEMD3):c.501C>T (p.Tyr167=)
NM_014319.5(LEMD3):c.618G>A (p.Glu206=) rs770408327
NM_014319.5(LEMD3):c.640G>T (p.Asp214Tyr) rs774803333
NM_014319.5(LEMD3):c.673G>C (p.Glu225Gln) rs886049776
NM_014319.5(LEMD3):c.750C>T (p.Val250=) rs148964879
NM_014319.5(LEMD3):c.86G>C (p.Gly29Ala) rs886049773
NM_014319.5(LEMD3):c.882C>T (p.Leu294=) rs764393737
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys) rs35221558
NM_014319.5(LEMD3):c.948C>T (p.Leu316=) rs183253527

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