ClinVar Miner

List of variants in gene LAMA2 reported as likely pathogenic for Laminin alpha 2-related dystrophy

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Total variants: 15
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HGVS dbSNP
NC_000006.11:g.(?_129371043)_(129622037_?)dup
NC_000006.11:g.(?_129486711)_(129514008_?)del
NC_000006.11:g.(?_129823784)_(129835760_?)del
NM_000426.3(LAMA2):c.1027+1G>T rs1064797327
NM_000426.3(LAMA2):c.1028-1G>A rs1562281922
NM_000426.3(LAMA2):c.1467+2T>C rs1554234163
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2322+1G>C rs945091158
NM_000426.3(LAMA2):c.3736-2A>T rs372715292
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.4960-2A>G rs1562512707
NM_000426.3(LAMA2):c.7899-1G>A rs1562614305
NM_000426.3(LAMA2):c.819+2T>C rs1554226188
NM_000426.3(LAMA2):c.8547+1G>T rs1554315373
NM_000426.3(LAMA2):c.8547+2T>C rs1450790879

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