ClinVar Miner

List of variants in gene LAMA3 reported as uncertain significance for Epidermolysis bullosa, junctional

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Total variants: 61
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HGVS dbSNP
NM_000227.4(LAMA3):c.*126A>G rs546219784
NM_000227.4(LAMA3):c.*239G>A rs45543834
NM_000227.4(LAMA3):c.*352A>G rs886053681
NM_000227.4(LAMA3):c.*48T>A rs886053680
NM_000227.4(LAMA3):c.1021C>G (p.Gln341Glu) rs886053671
NM_000227.4(LAMA3):c.1170G>A (p.Ser390=) rs564308785
NM_000227.4(LAMA3):c.1186C>T (p.Arg396Trp) rs373250558
NM_000227.4(LAMA3):c.128A>C (p.Gln43Pro) rs760019923
NM_000227.4(LAMA3):c.1375-12T>A rs764177904
NM_000227.4(LAMA3):c.1682G>C (p.Arg561Pro) rs148728856
NM_000227.4(LAMA3):c.1789-13G>T rs886053672
NM_000227.4(LAMA3):c.1863C>T (p.Ala621=) rs886053673
NM_000227.4(LAMA3):c.2294G>A (p.Arg765Gln) rs563440658
NM_000227.4(LAMA3):c.2391C>T (p.Asp797=) rs62093184
NM_000227.4(LAMA3):c.2509C>T (p.Arg837Trp) rs746635499
NM_000227.4(LAMA3):c.2638C>T (p.Arg880Trp) rs147463397
NM_000227.4(LAMA3):c.2655-5A>C rs780657629
NM_000227.4(LAMA3):c.2678A>G (p.Asn893Ser) rs139823161
NM_000227.4(LAMA3):c.2692G>A (p.Ala898Thr) rs187899159
NM_000227.4(LAMA3):c.2718C>T (p.Pro906=) rs145460785
NM_000227.4(LAMA3):c.2763T>C (p.Asn921=) rs886053674
NM_000227.4(LAMA3):c.2766G>A (p.Leu922=) rs753332450
NM_000227.4(LAMA3):c.2900A>G (p.Asn967Ser) rs781529313
NM_000227.4(LAMA3):c.2970C>T (p.Asp990=) rs61751706
NM_000227.4(LAMA3):c.304G>A (p.Ala102Thr) rs369226812
NM_000227.4(LAMA3):c.30C>T (p.Cys10=) rs145044428
NM_000227.4(LAMA3):c.3101G>T (p.Arg1034Leu) rs45516998
NM_000227.4(LAMA3):c.3268G>A (p.Val1090Ile) rs886053675
NM_000227.4(LAMA3):c.3366G>C (p.Thr1122=) rs762861196
NM_000227.4(LAMA3):c.3377G>A (p.Arg1126Gln) rs201106669
NM_000227.4(LAMA3):c.3414C>T (p.Val1138=) rs371174542
NM_000227.4(LAMA3):c.342T>C (p.Tyr114=) rs140561492
NM_000227.4(LAMA3):c.3451T>G (p.Cys1151Gly) rs886053676
NM_000227.4(LAMA3):c.3455C>T (p.Ser1152Leu) rs144549206
NM_000227.4(LAMA3):c.3456G>A (p.Ser1152=) rs146634036
NM_000227.4(LAMA3):c.3500G>A (p.Gly1167Glu) rs886053677
NM_000227.4(LAMA3):c.3749+7G>T rs1258107
NM_000227.4(LAMA3):c.3802C>T (p.His1268Tyr) rs35153125
NM_000227.4(LAMA3):c.3829C>T (p.Arg1277Cys) rs199991488
NM_000227.4(LAMA3):c.3830G>A (p.Arg1277His) rs759770267
NM_000227.4(LAMA3):c.3837C>T (p.Gly1279=) rs138908985
NM_000227.4(LAMA3):c.3881+4G>A rs200417639
NM_000227.4(LAMA3):c.3946G>A (p.Gly1316Arg) rs112986465
NM_000227.4(LAMA3):c.396-13G>C rs145241852
NM_000227.4(LAMA3):c.4002G>A (p.Arg1334=) rs141472847
NM_000227.4(LAMA3):c.4200-14G>A rs372927257
NM_000227.4(LAMA3):c.4201T>G (p.Ser1401Ala) rs886053678
NM_000227.4(LAMA3):c.4414C>T (p.Arg1472Cys) rs35762515
NM_000227.4(LAMA3):c.4685-11T>C rs776372744
NM_000227.4(LAMA3):c.4762C>T (p.His1588Tyr) rs776515886
NM_000227.4(LAMA3):c.477-4G>A rs370409067
NM_000227.4(LAMA3):c.4911C>T (p.Val1637=) rs886053679
NM_000227.4(LAMA3):c.5021G>A (p.Gly1674Asp) rs763342168
NM_000227.4(LAMA3):c.5110G>C (p.Val1704Leu) rs377024118
NM_000227.4(LAMA3):c.583+10A>G rs746263741
NM_000227.4(LAMA3):c.666C>T (p.Asn222=) rs199982757
NM_000227.4(LAMA3):c.695G>A (p.Arg232His) rs144475991
NM_000227.4(LAMA3):c.786+13C>T rs766241071
NM_000227.4(LAMA3):c.786+15_786+20delGCCGAG rs886053670
NM_000227.4(LAMA3):c.794T>C (p.Leu265Ser) rs139348197
NM_000227.4(LAMA3):c.946C>T (p.Arg316Trp) rs775241363

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