ClinVar Miner

List of variants studied for Becker muscular dystrophy by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.10477del (p.Gln3493fs) rs2148183751
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn) rs1556834513
NM_004006.3(DMD):c.2380+3A>C rs1569564916
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn) rs128626237
NM_004006.3(DMD):c.8548-1G>C rs1569546198
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

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