ClinVar Miner

List of variants reported as benign for Congenital muscular dystrophy due to partial LAMA2 deficiency

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_000426.4(LAMA2):c.*118T>C rs1049476 0.25167
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=) rs2297738 0.16113
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.07998
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_000426.4(LAMA2):c.6274+4C>T rs73775410 0.02805
NM_000426.4(LAMA2):c.-72G>A rs10080633 0.02533
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.02106
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=) rs56920166 0.01481
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_000426.4(LAMA2):c.*57A>C rs1049473 0.01179
NM_000426.4(LAMA2):c.1206+11C>T rs115007959 0.00915
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00899
NM_000426.4(LAMA2):c.2097-13T>C rs139246515 0.00415
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.9212-15C>A rs55776770

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