ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs) rs1554269855
NM_000426.4(LAMA2):c.8244+1G>T rs749522728
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092

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