ClinVar Miner

List of variants studied for Becker muscular dystrophy by Counsyl

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

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