ClinVar Miner

List of variants in gene LAMA1 reported as pathogenic by Dobyns Lab, Seattle Children's Research Institute

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005559.3:c.2988_2989delA
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter) rs587777681
NM_005559.4(LAMA1):c.588+2T>G rs587777677
NM_005559.4(LAMA1):c.6345+3G>C rs797045184
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs) rs797045182

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