ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic by GeneDx

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Total variants: 24
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HGVS dbSNP
NM_000426.3(LAMA2):c.1279_1280delGT (p.Val427Glnfs) rs1554230429
NM_000426.3(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126
NM_000426.3(LAMA2):c.1762delG (p.Ala588Leufs) rs786205654
NM_000426.3(LAMA2):c.1781_1782delAA (p.Lys594Thrfs) rs1554238384
NM_000426.3(LAMA2):c.1854_1861dupACGTGTTC (p.Leu621Hisfs) rs202247791
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2350dupT (p.Tyr784Leufs) rs1554260284
NM_000426.3(LAMA2):c.283+1G>A rs200288072
NM_000426.3(LAMA2):c.3215delG (p.Cys1072Serfs) rs886041297
NM_000426.3(LAMA2):c.3630delT (p.Ile1210Metfs) rs398123372
NM_000426.3(LAMA2):c.3799_3821del23 (p.Phe1267Aspfs) rs750220830
NM_000426.3(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.3(LAMA2):c.5260delG (p.Val1754Terfs) rs794727594
NM_000426.3(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.3(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942
NM_000426.3(LAMA2):c.5866-1G>A rs1064797040
NM_000426.3(LAMA2):c.6488delA (p.Lys2163Argfs) rs886039482
NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.7991delG (p.Gly2664Valfs) rs886039541
NM_000426.3(LAMA2):c.8245-2A>G rs914395925
NM_000426.3(LAMA2):c.8669dup (p.Leu2890Phefs) rs1554316216

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