ClinVar Miner

List of variants in gene DMD reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 0.00010
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.6953C>T (p.Ala2318Val) rs771215006 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.2780C>T (p.Ala927Val) rs41312094 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr) rs772732788 0.00003
NM_004006.3(DMD):c.1536C>A (p.His512Gln) rs776446238 0.00002
NM_004006.3(DMD):c.1219A>G (p.Ile407Val) rs1463021278 0.00001
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr) rs398123940 0.00001
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) rs1462655612 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 0.00001
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe) rs2041037870
NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro) rs1569418231
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.10880T>A (p.Met3627Lys)
NM_004006.3(DMD):c.2176G>T (p.Val726Phe) rs886044365
NM_004006.3(DMD):c.4321C>A (p.Leu1441Met) rs2097990662
NM_004006.3(DMD):c.4519-10T>G rs2097958853
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985

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