ClinVar Miner

List of variants in gene LAMA3 studied for epidermolysis bullosa, junctional 2A, intermediate

Included ClinVar conditions (3):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln) rs139393175 0.00017
NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His) rs139915002 0.00011
NM_198129.4(LAMA3):c.9027-14G>A rs372927257 0.00010
NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val) rs150757806 0.00008
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg) rs367800328 0.00004
NM_198129.4(LAMA3):c.4297A>G (p.Thr1433Ala) rs377141415 0.00004
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666 0.00002
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757 0.00001
NM_198129.4(LAMA3):c.7158+1G>A rs1057516279 0.00001
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter) rs777713989 0.00001
LAMA3, ARG1331CYS
LAMA3, IVS35, +1, G-A
NM_198129.4(LAMA3):c.1273+26_1273+41del
NM_198129.4(LAMA3):c.1273+51C>T
NM_198129.4(LAMA3):c.1789-1G>C
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.4(LAMA3):c.5112+1G>A rs1057517023
NM_198129.4(LAMA3):c.5121del (p.Gln1707fs)
NM_198129.4(LAMA3):c.5197dup (p.Ala1733fs) rs1555724066
NM_198129.4(LAMA3):c.5462-2A>G
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs) rs760487161
NM_198129.4(LAMA3):c.5837-1G>A
NM_198129.4(LAMA3):c.5910G>A (p.Trp1970Ter)
NM_198129.4(LAMA3):c.5973del (p.Ala1992fs)
NM_198129.4(LAMA3):c.6005T>A (p.Leu2002Ter)
NM_198129.4(LAMA3):c.6202-2A>G
NM_198129.4(LAMA3):c.6319-1G>A
NM_198129.4(LAMA3):c.6412del (p.Val2139fs)
NM_198129.4(LAMA3):c.7289del (p.Gly2430fs)
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.8043G>A (p.Ser2681=)
NM_198129.4(LAMA3):c.8044-2A>C
NM_198129.4(LAMA3):c.8102del (p.Asn2701fs) rs1555740963
NM_198129.4(LAMA3):c.8177+2T>A
NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)
NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198129.4(LAMA3):c.8577-2A>G
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter) rs2082180462
NM_198129.4(LAMA3):c.8705del (p.Gln2902fs) rs2145407506
NM_198129.4(LAMA3):c.8786T>G (p.Leu2929Ter) rs1401574168
NM_198129.4(LAMA3):c.8962C>T (p.Gln2988Ter) rs137852758
NM_198129.4(LAMA3):c.9498del (p.His3167fs)
NM_198129.4(LAMA3):c.9500dup (p.His3167fs)
NM_198129.4(LAMA3):c.9512-1G>A
NM_198129.4(LAMA3):c.9606del (p.Lys3204fs)
NM_198129.4(LAMA3):c.9867del (p.Thr3290fs)

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