ClinVar Miner

List of variants in gene LAMA2 reported as uncertain significance for Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23

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Total variants: 18
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HGVS dbSNP
NM_000426.3(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830
NM_000426.3(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004
NM_000426.3(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698
NM_000426.3(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778
NM_000426.3(LAMA2):c.4205G>A (p.Arg1402His) rs144830879
NM_000426.3(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503
NM_000426.3(LAMA2):c.4969G>A (p.Val1657Met) rs370971334
NM_000426.3(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562
NM_000426.3(LAMA2):c.6268+5G>C rs182064878
NM_000426.3(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540
NM_000426.3(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343
NM_000426.3(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233
NM_000426.3(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627
NM_000426.3(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576
NM_000426.3(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361
NM_000426.3(LAMA2):c.9161C>A (p.Ala3054Glu)
NM_000426.3(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166
NM_000426.3(LAMA2):c.946G>A (p.Asp316Asn) rs141340479

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