ClinVar Miner

List of variants in gene LEMD3 reported as uncertain significance for Buschke-Ollendorff syndrome

Included ClinVar conditions (1):
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Total variants: 49
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HGVS dbSNP
NM_014319.5(LEMD3):c.*1141A>G rs886049781
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.*1759G>T rs886049785
NM_014319.5(LEMD3):c.*1925G>T
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.*576A>G rs527664684
NM_014319.5(LEMD3):c.*5A>G
NM_014319.5(LEMD3):c.*790G>C rs886049780
NM_014319.5(LEMD3):c.*899T>C
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.1075G>A (p.Val359Ile) rs376822761
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.1556T>G (p.Ile519Arg)
NM_014319.5(LEMD3):c.1586A>G (p.Asn529Ser)
NM_014319.5(LEMD3):c.1627+12_1627+14del rs886049778
NM_014319.5(LEMD3):c.1631A>C (p.Asp544Ala)
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.2094T>G (p.His698Gln) rs1309178409
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.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.345A>G (p.Pro115=) rs530591432
NM_014319.5(LEMD3):c.349A>G (p.Ser117Gly) rs886049774
NM_014319.5(LEMD3):c.380C>T (p.Ala127Val) rs886049775
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.86G>C (p.Gly29Ala) rs886049773
NM_014319.5(LEMD3):c.882C>T (p.Leu294=) rs764393737

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