ClinVar Miner

List of variants in gene LAMA1 reported as pathogenic for not provided

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter) rs767943611 0.00004
NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter) rs374851540 0.00003
NM_005559.4(LAMA1):c.295C>T (p.Gln99Ter) rs1178073729 0.00003
NM_005559.4(LAMA1):c.1034del (p.Gln345fs) rs1373970320 0.00001
NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs) rs754361205 0.00001
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter) rs769655038 0.00001
NM_005559.4(LAMA1):c.5661-2A>G rs930107993 0.00001
NM_005559.4(LAMA1):c.6299del (p.Leu2099_Ser2100insTer) rs1131691789 0.00001
NM_005559.4(LAMA1):c.8931G>A (p.Trp2977Ter) rs1236564978 0.00001
NC_000018.9:g.(?_6942078)_(7118955_?)del
NC_000018.9:g.(?_6974882)_(6976099_?)del
NC_000018.9:g.(?_6999424)_(7000016_?)del
NC_000018.9:g.(?_7013794)_(7015877_?)del
NC_000018.9:g.(?_7043206)_(7043424_?)del
NC_000018.9:g.(?_7079954)_(7080476_?)del
NM_005559.4(LAMA1):c.11del (p.Gly4fs) rs767647793
NM_005559.4(LAMA1):c.1243del (p.His415fs) rs1064793632
NM_005559.4(LAMA1):c.1972C>T (p.Gln658Ter) rs2144167132
NM_005559.4(LAMA1):c.2079del (p.Ser694fs)
NM_005559.4(LAMA1):c.2233dup (p.His745fs)
NM_005559.4(LAMA1):c.2481G>A (p.Trp827Ter)
NM_005559.4(LAMA1):c.2907dup (p.His970fs)
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005559.4(LAMA1):c.3042T>A (p.Cys1014Ter)
NM_005559.4(LAMA1):c.3048C>A (p.Cys1016Ter)
NM_005559.4(LAMA1):c.3667C>T (p.Gln1223Ter)
NM_005559.4(LAMA1):c.3881G>A (p.Trp1294Ter)
NM_005559.4(LAMA1):c.3888T>A (p.Tyr1296Ter)
NM_005559.4(LAMA1):c.3888T>G (p.Tyr1296Ter)
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)
NM_005559.4(LAMA1):c.448del (p.Gln150fs)
NM_005559.4(LAMA1):c.453T>G (p.Tyr151Ter)
NM_005559.4(LAMA1):c.4676_4679del (p.Glu1559fs) rs777848304
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs) rs2057789980
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter) rs752872595
NM_005559.4(LAMA1):c.5368A>T (p.Arg1790Ter)
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter) rs1568019012
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter) rs376548651
NM_005559.4(LAMA1):c.5689del (p.Ser1896_Leu1897insTer)
NM_005559.4(LAMA1):c.60_61del (p.Gly21fs) rs1598328279
NM_005559.4(LAMA1):c.6517C>T (p.Arg2173Ter) rs781634167
NM_005559.4(LAMA1):c.6861dup (p.Ile2288fs) rs2057660103
NM_005559.4(LAMA1):c.6982C>T (p.Gln2328Ter)
NM_005559.4(LAMA1):c.768+1G>A rs769174266
NM_005559.4(LAMA1):c.7946dup (p.Asn2649fs) rs2143999488
NM_005559.4(LAMA1):c.8324del (p.Phe2775fs)
NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter) rs2144193240
NM_005559.4(LAMA1):c.8737del (p.Asp2913fs) rs776769192
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005559.4(LAMA1):c.8777del (p.Asn2926fs)

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