ClinVar Miner

List of variants in gene LAMA2 reported as likely pathogenic by GeneDx

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Total variants: 15
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HGVS dbSNP
NM_000426.3(LAMA2):c.12del (p.Ala5fs) rs1554312639
NM_000426.3(LAMA2):c.1499G>A (p.Cys500Tyr) rs1064794941
NM_000426.3(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.3(LAMA2):c.3555+1G>A rs1057518119
NM_000426.3(LAMA2):c.3636del (p.Gln1213fs) rs1064795451
NM_000426.3(LAMA2):c.397-35_397del36 rs1554217476
NM_000426.3(LAMA2):c.4002T>G (p.Tyr1334Ter) rs1562451730
NM_000426.3(LAMA2):c.4436+5G>T rs1057524616
NM_000426.3(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.3(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.3(LAMA2):c.6062dup (p.Leu2023fs) rs1554297242
NM_000426.3(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.3(LAMA2):c.6605G>T (p.Gly2202Val) rs1554299897
NM_000426.3(LAMA2):c.6992+5G>A rs1221715098
NM_000426.3(LAMA2):c.8452C>G (p.Leu2818Val) rs1064795750

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