ClinVar Miner

List of variants in gene LAMC3 reported as pathogenic

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00006
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg) rs571785750 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_006059.4(LAMC3):c.2430C>A (p.Cys810Ter) rs769118642 0.00002
NM_006059.4(LAMC3):c.1033_1039del (p.Ser345fs) rs1426926688 0.00001
NM_006059.4(LAMC3):c.1282A>T (p.Arg428Ter) rs141823760 0.00001
NM_006059.4(LAMC3):c.1470_1471dup (p.Ser491fs) rs781177649 0.00001
NC_000009.11:g.(?_133878071)_(133884691_?)del
NC_000009.11:g.(?_133884602)_(133921067_?)del
NC_000009.11:g.(?_133901652)_(133914655_?)del
NC_000009.11:g.(?_133952554)_(133952741_?)del
NC_000009.12:g.131066961del
NM_006059.4(LAMC3):c.1032_1047del (p.Ser345fs)
NM_006059.4(LAMC3):c.1064del (p.Cys355fs)
NM_006059.4(LAMC3):c.106del (p.Leu36fs)
NM_006059.4(LAMC3):c.1092_1093del (p.Cys364_Glu365delinsTer)
NM_006059.4(LAMC3):c.1156C>T (p.Gln386Ter) rs387906887
NM_006059.4(LAMC3):c.1262C>A (p.Ser421Ter)
NM_006059.4(LAMC3):c.145C>T (p.Gln49Ter)
NM_006059.4(LAMC3):c.1533G>A (p.Trp511Ter)
NM_006059.4(LAMC3):c.1553dup (p.Ser519fs)
NM_006059.4(LAMC3):c.1568dup (p.Gln524fs)
NM_006059.4(LAMC3):c.1570C>T (p.Gln524Ter)
NM_006059.4(LAMC3):c.1609G>T (p.Glu537Ter)
NM_006059.4(LAMC3):c.2090del (p.Gln697fs) rs1834422689
NM_006059.4(LAMC3):c.2096dup (p.Pro700fs)
NM_006059.4(LAMC3):c.2127T>A (p.Cys709Ter) rs746299403
NM_006059.4(LAMC3):c.223C>T (p.Gln75Ter) rs2133193530
NM_006059.4(LAMC3):c.2242C>T (p.Gln748Ter)
NM_006059.4(LAMC3):c.2280_2284del (p.Gln760fs)
NM_006059.4(LAMC3):c.2302G>T (p.Glu768Ter) rs2133299037
NM_006059.4(LAMC3):c.2336del (p.Pro779fs) rs765163533
NM_006059.4(LAMC3):c.2339dup (p.Gln781fs)
NM_006059.4(LAMC3):c.2382dup (p.Gly795fs) rs2133312126
NM_006059.4(LAMC3):c.247del (p.Gln83fs)
NM_006059.4(LAMC3):c.2480del (p.Leu827fs) rs1334057595
NM_006059.4(LAMC3):c.2572C>T (p.Arg858Ter)
NM_006059.4(LAMC3):c.2773C>T (p.Gln925Ter)
NM_006059.4(LAMC3):c.2851C>T (p.Gln951Ter)
NM_006059.4(LAMC3):c.3016_3031dup (p.Gln1011fs)
NM_006059.4(LAMC3):c.3051C>A (p.Tyr1017Ter) rs537864425
NM_006059.4(LAMC3):c.317dup (p.Ser107fs) rs957219392
NM_006059.4(LAMC3):c.3181del (p.Asp1061fs) rs1554789671
NM_006059.4(LAMC3):c.332dup (p.Val112fs) rs2133193948
NM_006059.4(LAMC3):c.3378del (p.Glu1127fs)
NM_006059.4(LAMC3):c.3423dup (p.Pro1142fs)
NM_006059.4(LAMC3):c.3438del (p.Ser1147fs) rs2133327116
NM_006059.4(LAMC3):c.345del (p.Thr116fs)
NM_006059.4(LAMC3):c.3502_3503del (p.Asp1168fs)
NM_006059.4(LAMC3):c.3532dup (p.Trp1178fs)
NM_006059.4(LAMC3):c.3721C>T (p.Gln1241Ter) rs2133335629
NM_006059.4(LAMC3):c.3953del (p.Leu1318fs) rs2133344366
NM_006059.4(LAMC3):c.3976C>T (p.Gln1326Ter)
NM_006059.4(LAMC3):c.470G>A (p.Trp157Ter) rs1564365706
NM_006059.4(LAMC3):c.513C>G (p.Tyr171Ter) rs556275584
NM_006059.4(LAMC3):c.696del (p.Glu233fs)
NM_006059.4(LAMC3):c.780T>G (p.Tyr260Ter)
NM_006059.4(LAMC3):c.800_801del (p.Val267fs) rs770311615
NM_006059.4(LAMC3):c.877C>T (p.Gln293Ter) rs1833941275
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer) rs761516738
NM_006059.4(LAMC3):c.976_977insTCACGAGTGTCTGC (p.Pro326fs)
NM_006059.4(LAMC3):c.981C>A (p.Cys327Ter)

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