ClinVar Miner

List of variants in gene LAMA3 studied for Laryngoonychocutaneous syndrome

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Total variants: 78
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HGVS dbSNP
NM_000227.4(LAMA3):c.786+15_786+20delGCCGAG rs886053670
NM_198129.3(LAMA3):c.*126A>G rs546219784
NM_198129.3(LAMA3):c.*239G>A rs45543834
NM_198129.3(LAMA3):c.*352A>G rs886053681
NM_198129.3(LAMA3):c.*395A>T rs138907590
NM_198129.3(LAMA3):c.*48T>A rs886053680
NM_198129.3(LAMA3):c.*89C>A rs1051149
NM_198129.3(LAMA3):c.*91C>T rs1051150
NM_198129.3(LAMA3):c.4998+1413C>T rs145044428
NM_198129.3(LAMA3):c.4998+1493T>G rs138914132
NM_198129.3(LAMA3):c.4998+1511A>C rs760019923
NM_198129.3(LAMA3):c.4998+1534dup rs80356678
NM_198129.3(LAMA3):c.5131G>A (p.Ala1711Thr) rs369226812
NM_198129.3(LAMA3):c.5169T>C (p.Tyr1723=) rs140561492
NM_198129.3(LAMA3):c.5223-13G>C rs145241852
NM_198129.3(LAMA3):c.5304-4G>A rs370409067
NM_198129.3(LAMA3):c.5322C>T (p.Phe1774=) rs958631
NM_198129.3(LAMA3):c.5410+10A>G rs746263741
NM_198129.3(LAMA3):c.5493C>T (p.Asn1831=) rs199982757
NM_198129.3(LAMA3):c.5522G>A (p.Arg1841His) rs144475991
NM_198129.3(LAMA3):c.5613+13C>T rs766241071
NM_198129.3(LAMA3):c.5621T>C (p.Leu1874Ser) rs139348197
NM_198129.3(LAMA3):c.5773C>T (p.Arg1925Trp) rs775241363
NM_198129.3(LAMA3):c.5848C>G (p.Gln1950Glu) rs886053671
NM_198129.3(LAMA3):c.5997G>A (p.Ser1999=) rs564308785
NM_198129.3(LAMA3):c.6013C>T (p.Arg2005Trp) rs373250558
NM_198129.3(LAMA3):c.6147C>G (p.Ala2049=) rs1154226
NM_198129.3(LAMA3):c.6202-12T>A rs764177904
NM_198129.3(LAMA3):c.6509G>C (p.Arg2170Pro) rs148728856
NM_198129.3(LAMA3):c.6555C>T (p.Ala2185=) rs35872318
NM_198129.3(LAMA3):c.6616-13G>T rs886053672
NM_198129.3(LAMA3):c.6690C>T (p.Ala2230=) rs886053673
NM_198129.3(LAMA3):c.7121G>A (p.Arg2374Gln) rs563440658
NM_198129.3(LAMA3):c.7218C>T (p.Asp2406=) rs62093184
NM_198129.3(LAMA3):c.7336C>T (p.Arg2446Trp) rs746635499
NM_198129.3(LAMA3):c.7465C>T (p.Arg2489Trp) rs147463397
NM_198129.3(LAMA3):c.7482-5A>C rs780657629
NM_198129.3(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161
NM_198129.3(LAMA3):c.7519G>A (p.Ala2507Thr) rs187899159
NM_198129.3(LAMA3):c.7545C>T (p.Pro2515=) rs145460785
NM_198129.3(LAMA3):c.7590T>C (p.Asn2530=) rs886053674
NM_198129.3(LAMA3):c.7593G>A (p.Leu2531=) rs753332450
NM_198129.3(LAMA3):c.7727A>G (p.Asn2576Ser) rs781529313
NM_198129.3(LAMA3):c.7797C>T (p.Asp2599=) rs61751706
NM_198129.3(LAMA3):c.7928G>T (p.Arg2643Leu) rs45516998
NM_198129.3(LAMA3):c.8095G>A (p.Val2699Ile) rs886053675
NM_198129.3(LAMA3):c.8104A>G (p.Thr2702Ala) rs9952370
NM_198129.3(LAMA3):c.8193G>C (p.Thr2731=) rs762861196
NM_198129.3(LAMA3):c.8204G>A (p.Arg2735Gln) rs201106669
NM_198129.3(LAMA3):c.8241C>T (p.Val2747=) rs371174542
NM_198129.3(LAMA3):c.8278T>G (p.Cys2760Gly) rs886053676
NM_198129.3(LAMA3):c.8282C>T (p.Ser2761Leu) rs144549206
NM_198129.3(LAMA3):c.8283G>A (p.Ser2761=) rs146634036
NM_198129.3(LAMA3):c.8327G>A (p.Gly2776Glu) rs886053677
NM_198129.3(LAMA3):c.8445C>A (p.Asn2815Lys) rs1154232
NM_198129.3(LAMA3):c.8500= (p.Gly2834=) rs1154233
NM_198129.3(LAMA3):c.8576+7G>C rs1258107
NM_198129.3(LAMA3):c.8576+7G>T rs1258107
NM_198129.3(LAMA3):c.8629C>T (p.His2877Tyr) rs35153125
NM_198129.3(LAMA3):c.8656C>T (p.Arg2886Cys) rs199991488
NM_198129.3(LAMA3):c.8657G>A (p.Arg2886His) rs759770267
NM_198129.3(LAMA3):c.8664C>T (p.Gly2888=) rs138908985
NM_198129.3(LAMA3):c.8708+4G>A rs200417639
NM_198129.3(LAMA3):c.8731C>T (p.Leu2911=) rs1131521
NM_198129.3(LAMA3):c.8773G>A (p.Gly2925Arg) rs112986465
NM_198129.3(LAMA3):c.8829G>A (p.Arg2943=) rs141472847
NM_198129.3(LAMA3):c.8898C>T (p.Ser2966=) rs141164795
NM_198129.3(LAMA3):c.9027-14G>A rs372927257
NM_198129.3(LAMA3):c.9028T>G (p.Ser3010Ala) rs886053678
NM_198129.3(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515
NM_198129.3(LAMA3):c.9352-7G>A rs2241643
NM_198129.3(LAMA3):c.9353G>A (p.Ser3118Asn) rs61749943
NM_198129.3(LAMA3):c.9512-11T>C rs776372744
NM_198129.3(LAMA3):c.9589C>T (p.His3197Tyr) rs776515886
NM_198129.3(LAMA3):c.9643-14C>T rs72875942
NM_198129.3(LAMA3):c.9738C>T (p.Val3246=) rs886053679
NM_198129.3(LAMA3):c.9848G>A (p.Gly3283Asp) rs763342168
NM_198129.3(LAMA3):c.9937G>C (p.Val3313Leu) rs377024118

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