ClinVar Miner

List of variants in gene DMD studied for Becker muscular dystrophy

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Total variants: 33
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HGVS dbSNP
BMD, IVS13, G-T, -1
DMD, 1-BP DEL, 10683C
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
NM_004006.2(DMD):c.1000T>A (p.Leu334Met) rs1280415176
NM_004006.2(DMD):c.10098_10100AGA[1] (p.Glu3367del) rs886042840
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10262C>T (p.Ala3421Val) rs104894791
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.2(DMD):c.1318G>A (p.Glu440Lys) rs189143447
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.2380+3A>C rs1569564916
NM_004006.2(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004006.2(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.2(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.2(DMD):c.5489G>T (p.Arg1830Ile) rs369055628
NM_004006.2(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.2(DMD):c.691T>A (p.Tyr231Asn) rs128626237
NM_004006.2(DMD):c.703C>A (p.Leu235Ile) rs200177107
NM_004006.2(DMD):c.7096C>A (p.Gln2366Lys) rs1800275
NM_004006.2(DMD):c.7310-1G>A rs1556880354
NM_004006.2(DMD):c.8548-1G>C rs1569546198
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004006.2(DMD):c.9225-285A>G rs587776747
NM_004006.2(DMD):c.94-1G>T rs863225016
NM_004006.2(DMD):c.9854_9863del (p.Met3285fs) rs398124105
NM_004006.2(DMD):c.9G>A (p.Trp3Ter) rs398122853
Single allele

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