ClinVar Miner

List of variants in gene LAMA2 reported as likely benign for Merosin deficient congenital muscular dystrophy

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_000426.4(LAMA2):c.6269-831C>G rs371162111 0.00047
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) rs367622610 0.00011
NM_000426.4(LAMA2):c.6269-829A>G rs758519410 0.00003
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) rs372212378 0.00003
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) rs398123369 0.00001
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) rs138702650 0.00001
NM_000426.4(LAMA2):c.6269-820A>G rs544696321 0.00001
NM_000426.4(LAMA2):c.6269-855A>T rs1554297879 0.00001
NM_000426.4(LAMA2):c.6269-856C>G rs763589558 0.00001
NM_000426.4(LAMA2):c.6269-831C>T rs371162111
NM_000426.4(LAMA2):c.6269-845C>T rs1554297888
NM_000426.4(LAMA2):c.6269-848T>A rs1554297884
NM_000426.4(LAMA2):c.6269-848T>C rs1554297884
NM_000426.4(LAMA2):c.6269-849C>T rs1554297881
NM_000426.4(LAMA2):c.6269-852A>C rs766496312
NM_000426.4(LAMA2):c.6269-855A>C rs1554297879
NM_000426.4(LAMA2):c.6269-855A>G rs1554297879
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) rs886038295

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