ClinVar Miner

List of variants reported as benign for Merosin deficient congenital muscular dystrophy by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 11
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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.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168

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