ClinVar Miner

List of variants in gene DMD reported as uncertain significance for Dystrophin deficiency

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.5400A>C (p.Glu1800Asp) rs757290084 0.00009
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr) rs137898199 0.00007
NM_004006.3(DMD):c.6545A>G (p.Gln2182Arg) rs749804804 0.00004
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly) rs745766977 0.00002
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly) rs759820971 0.00002
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg) rs371601285 0.00002
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu) rs1040362862 0.00002
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser) rs373428963 0.00002
NM_004006.3(DMD):c.10306C>T (p.Arg3436Cys) rs768314745 0.00001
NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr) rs1454929812 0.00001
NM_004006.3(DMD):c.1523A>G (p.Asn508Ser) rs886044658 0.00001
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_004006.3(DMD):c.2134A>G (p.Arg712Gly) rs1294221734 0.00001
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn) rs1369953471 0.00001
NM_004006.3(DMD):c.5439T>C (p.Asn1813=) rs1238738620 0.00001
NM_004006.3(DMD):c.6431A>T (p.Tyr2144Phe) rs1569551376 0.00001
NM_004006.3(DMD):c.711A>C (p.Gln237His) rs778632674 0.00001
NM_004006.3(DMD):c.7652C>T (p.Thr2551Met) rs778691311 0.00001
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp) rs1188233243 0.00001
NM_004006.3(DMD):c.1093C>G (p.Gln365Glu) rs794726993
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys) rs1429329309
NM_004006.3(DMD):c.325G>C (p.Gly109Arg) rs1060502658
NM_004006.3(DMD):c.4233+4A>C rs1060502617
NM_004006.3(DMD):c.4296G>T (p.Gln1432His) rs747262903
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro) rs1057515873
NM_004006.3(DMD):c.5149C>A (p.Leu1717Ile) rs769383291
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.6806A>G (p.Gln2269Arg) rs2094829116
NM_004006.3(DMD):c.95T>C (p.Phe32Ser) rs2080986752

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