ClinVar Miner

List of variants reported as likely pathogenic for Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23

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Total variants: 71
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HGVS dbSNP
NM_000426.3(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891
NM_000426.3(LAMA2):c.1467+2T>C rs1554234163
NM_000426.3(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter)
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter)
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter)
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter)
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter)
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter)
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter)
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter)
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter)
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter)
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter)
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter)
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter)
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter)
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter)
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter)
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter)
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter)
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter)
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter)
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter)
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter)
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter)
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter)
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter)
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter)
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter)
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter)
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter)
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter)
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter)
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter)
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter)
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter)
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter)
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter)
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter)
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)

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