ClinVar Miner

List of variants studied for Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency by Natera Inc

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Total variants: 11
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HGVS dbSNP
NM_004006.2(DMD):c.1897A>T (p.Asn633Tyr) rs757047592
NM_004006.2(DMD):c.3379C>G (p.Leu1127Val) rs141887693
NM_004006.2(DMD):c.5076A>G (p.Thr1692=) rs145181319
NM_004006.2(DMD):c.960+9A>G rs886038537
NM_004006.2(DMD):c.9804A>G (p.Gln3268=) rs12690372
NM_004006.3(DMD):c.2645= (p.Asp882=) rs228406
NM_004006.3(DMD):c.265-438T>C rs1459975890
NM_004006.3(DMD):c.3510C>T (p.His1170=) rs138945423
NM_004006.3(DMD):c.5999A>T (p.Tyr2000Phe) rs1603630432
NM_004006.3(DMD):c.8027+11C>T rs2270672
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp) rs1188233243

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