ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic by OMIM

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Total variants: 19
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HGVS dbSNP
LAMA2, 1-BP DEL, 8314A
LAMA2, 2-BP DEL, 2098AG
LAMA2, IVS30, A-T, -2
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000426.3(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577
NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.3(LAMA2):c.391C>T (p.Gln131Ter) rs1562200866
NM_000426.3(LAMA2):c.3924+2T>C rs1554269966
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575
NM_000426.3(LAMA2):c.4860+2delinsGGCC rs1562497781
NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.3(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.3(LAMA2):c.7691T>C rs121913570
NM_000426.3(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572
NM_000426.3(LAMA2):c.7750-1713_7899-2153del
NM_000426.3(LAMA2):c.825del (p.Tyr276fs) rs1562275792
NM_000426.3(LAMA2):c.9253C>T rs121913571

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