ClinVar Miner

List of variants in gene LAMA3 reported as pathogenic for not provided

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Gene type:
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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8708+1G>A rs754558574 0.00003
NM_198129.4(LAMA3):c.9311C>T (p.Ala3104Val) rs571009750 0.00003
NM_198129.4(LAMA3):c.5099C>G (p.Ser1700Ter) rs754323928 0.00001
NM_198129.4(LAMA3):c.5108del (p.Cys1703fs) rs1273874335 0.00001
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757 0.00001
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter) rs777713989 0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.9428C>G (p.Ser3143Ter) rs1178486820 0.00001
NC_000018.9:g.(?_21478692)_(21479039_?)del
NC_000018.9:g.(?_21484507)_(21485598_?)del
NC_000018.9:g.(?_21487504)_(21489269_?)del
NC_000018.9:g.(?_21508077)_(21508739_?)del
NC_000018.9:g.(?_21519177)_(21519360_?)del
NM_198129.4(LAMA3):c.4683+2T>G rs765943112
NM_198129.4(LAMA3):c.5000_5003del (p.Gly1667fs) rs2144861585
NM_198129.4(LAMA3):c.5016C>A (p.Tyr1672Ter) rs1169182678
NM_198129.4(LAMA3):c.5049del (p.Cys1684fs) rs752030611
NM_198129.4(LAMA3):c.5061C>A (p.Cys1687Ter) rs2144862529
NM_198129.4(LAMA3):c.5075_5091del (p.His1692fs)
NM_198129.4(LAMA3):c.5119C>T (p.Gln1707Ter) rs1454998189
NM_198129.4(LAMA3):c.5137G>T (p.Glu1713Ter) rs1479370067
NM_198129.4(LAMA3):c.5394T>A (p.Cys1798Ter) rs2145011418
NM_198129.4(LAMA3):c.5485del (p.Leu1829fs) rs2080823095
NM_198129.4(LAMA3):c.5542C>T (p.Gln1848Ter)
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs) rs760487161
NM_198129.4(LAMA3):c.5568dup (p.Leu1857fs) rs2145063212
NM_198129.4(LAMA3):c.5622_5635del (p.Leu1874fs) rs2145098103
NM_198129.4(LAMA3):c.5632del (p.Arg1878fs) rs2080963405
NM_198129.4(LAMA3):c.5645C>G (p.Ser1882Ter)
NM_198129.4(LAMA3):c.5728C>T (p.Gln1910Ter) rs1220989716
NM_198129.4(LAMA3):c.5911dup (p.Ala1971fs)
NM_198129.4(LAMA3):c.5971G>T (p.Glu1991Ter) rs2145106713
NM_198129.4(LAMA3):c.5992G>T (p.Glu1998Ter) rs2145107064
NM_198129.4(LAMA3):c.6000_6003dup (p.Leu2002fs)
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs) rs1555731178
NM_198129.4(LAMA3):c.6093C>G (p.Tyr2031Ter) rs752860014
NM_198129.4(LAMA3):c.6100A>T (p.Lys2034Ter) rs2145124301
NM_198129.4(LAMA3):c.6112del (p.Leu2038fs)
NM_198129.4(LAMA3):c.6128_6140del (p.Gln2043fs) rs2145124774
NM_198129.4(LAMA3):c.6199C>T (p.Gln2067Ter) rs2145125519
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.4(LAMA3):c.6244A>T (p.Lys2082Ter)
NM_198129.4(LAMA3):c.6358C>T (p.Gln2120Ter)
NM_198129.4(LAMA3):c.6469G>T (p.Glu2157Ter) rs766870171
NM_198129.4(LAMA3):c.6478A>T (p.Lys2160Ter) rs2081179434
NM_198129.4(LAMA3):c.6505del (p.Val2169fs) rs1057516476
NM_198129.4(LAMA3):c.6561del (p.Ala2188fs)
NM_198129.4(LAMA3):c.6567del (p.Glu2190fs) rs1555732939
NM_198129.4(LAMA3):c.6568G>T (p.Glu2190Ter)
NM_198129.4(LAMA3):c.6691A>T (p.Lys2231Ter)
NM_198129.4(LAMA3):c.6764dup (p.Thr2256fs)
NM_198129.4(LAMA3):c.6778G>T (p.Glu2260Ter) rs2145180670
NM_198129.4(LAMA3):c.6812dup (p.Asp2271fs)
NM_198129.4(LAMA3):c.6847_6854del (p.Ala2283fs) rs2145182512
NM_198129.4(LAMA3):c.7023_7027del (p.Lys2341fs)
NM_198129.4(LAMA3):c.7072C>T (p.Gln2358Ter)
NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter) rs1555735252
NM_198129.4(LAMA3):c.7100del (p.Ser2367fs)
NM_198129.4(LAMA3):c.7120C>T (p.Arg2374Ter)
NM_198129.4(LAMA3):c.7300_7301del (p.Met2434fs)
NM_198129.4(LAMA3):c.7458del (p.Met2487fs)
NM_198129.4(LAMA3):c.7489C>T (p.Gln2497Ter) rs1555737779
NM_198129.4(LAMA3):c.7629C>A (p.Tyr2543Ter)
NM_198129.4(LAMA3):c.7658_7659del (p.Leu2553fs)
NM_198129.4(LAMA3):c.7658dup (p.Ser2554fs)
NM_198129.4(LAMA3):c.7738del (p.Thr2580fs) rs2145251876
NM_198129.4(LAMA3):c.7786_7789del (p.Glu2596fs)
NM_198129.4(LAMA3):c.7819_7820del (p.Gly2607fs)
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.4(LAMA3):c.7990del (p.Leu2664fs)
NM_198129.4(LAMA3):c.8081G>A (p.Trp2694Ter) rs1555740945
NM_198129.4(LAMA3):c.8087_8090delinsTGC (p.Asn2696fs) rs2145313422
NM_198129.4(LAMA3):c.8142T>G (p.Tyr2714Ter)
NM_198129.4(LAMA3):c.8145T>A (p.Tyr2715Ter) rs2145314200
NM_198129.4(LAMA3):c.8211C>A (p.Cys2737Ter)
NM_198129.4(LAMA3):c.8263G>T (p.Gly2755Ter)
NM_198129.4(LAMA3):c.8284del (p.Glu2762fs) rs2145371777
NM_198129.4(LAMA3):c.8374C>T (p.Gln2792Ter)
NM_198129.4(LAMA3):c.8420T>G (p.Leu2807Ter)
NM_198129.4(LAMA3):c.8436+1G>A rs886039412
NM_198129.4(LAMA3):c.8446del (p.Leu2816fs)
NM_198129.4(LAMA3):c.8550T>A (p.Tyr2850Ter)
NM_198129.4(LAMA3):c.8583del (p.Leu2862fs) rs2082179831
NM_198129.4(LAMA3):c.8599C>T (p.Gln2867Ter) rs2082180462
NM_198129.4(LAMA3):c.8644del (p.Arg2882fs) rs1555745215
NM_198129.4(LAMA3):c.8705del (p.Gln2902fs) rs2145407506
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter) rs2145417826
NM_198129.4(LAMA3):c.8807dup (p.Met2936fs)
NM_198129.4(LAMA3):c.8910G>A (p.Trp2970Ter)
NM_198129.4(LAMA3):c.8911C>T (p.Gln2971Ter) rs2145461231
NM_198129.4(LAMA3):c.9073del (p.Val3025fs)
NM_198129.4(LAMA3):c.9103dup (p.Met3035fs)
NM_198129.4(LAMA3):c.9114T>G (p.Tyr3038Ter) rs1555751423
NM_198129.4(LAMA3):c.9162dup (p.Leu3055fs)
NM_198129.4(LAMA3):c.9165del (p.Arg3056fs)
NM_198129.4(LAMA3):c.9236dup (p.Arg3081fs) rs2145525803
NM_198129.4(LAMA3):c.9255del (p.Asp3085fs)
NM_198129.4(LAMA3):c.9397del (p.Leu3133fs) rs1599181806
NM_198129.4(LAMA3):c.9511+1G>T
NM_198129.4(LAMA3):c.9617T>G (p.Leu3206Ter) rs767178143
NM_198129.4(LAMA3):c.9642G>T (p.Lys3214Asn)
NM_198129.4(LAMA3):c.9702_9705dup (p.Leu3236fs)
NM_198129.4(LAMA3):c.9736+1G>A
NM_198129.4(LAMA3):c.9826C>T (p.Gln3276Ter)
NM_198129.4(LAMA3):c.9856+1G>A
NM_198129.4(LAMA3):c.9856+1G>T
NM_198129.4(LAMA3):c.9887G>A (p.Trp3296Ter) rs2083046669
NM_198129.4(LAMA3):c.9893C>A (p.Ser3298Ter) rs2145593522

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