ClinVar Miner

List of variants in gene DMD reported as uncertain significance for Becker muscular dystrophy

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Total variants: 25
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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.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00006
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) rs778354538 0.00001
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
NM_004006.3(DMD):c.10349G>T (p.Ser3450Ile) rs2040083096
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile) rs1555996685
NM_004006.3(DMD):c.170T>C (p.Leu57Pro) rs886044431
NM_004006.3(DMD):c.2366A>G (p.Glu789Gly)
NM_004006.3(DMD):c.3327T>A (p.Asn1109Lys) rs775591219
NM_004006.3(DMD):c.336_337delinsTT (p.Trp112_Asn113delinsCysTyr) rs2524458085
NM_004006.3(DMD):c.3574G>A (p.Glu1192Lys)
NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys) rs1557340452
NM_004006.3(DMD):c.5068_5070del (p.His1690del) rs761764494
NM_004006.3(DMD):c.607G>C (p.Ala203Pro) rs1220485962
NM_004006.3(DMD):c.689T>G (p.Met230Arg) rs2147606547
NM_004006.3(DMD):c.8217+23338A>G
NM_004006.3(DMD):c.8800G>C (p.Glu2934Gln) rs1603222556
NM_004006.3(DMD):c.917A>C (p.Tyr306Ser) rs2147581077
NM_004006.3(DMD):c.9946_9947delinsAT (p.Cys3316Ile) rs2520021459
NM_004006.3(DMD):c.9973A>G (p.Arg3325Gly) rs2520020776

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