ClinVar Miner

List of variants in gene LAMB2 reported as pathogenic for Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities

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Total variants: 7
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HGVS dbSNP
NC_000003.11:g.(?_49161700_49165984dup
NM_002292.4(LAMB2):c.1276del (p.His426fs)
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)
NM_002292.4(LAMB2):c.452_453del (p.Thr151fs)
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921

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