ClinVar Miner

List of variants in gene DMD reported by Clinical Genetics Laboratory, Skane University Hospital Lund

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.5156G>A (p.Arg1719His) rs1273883368 0.00001
NM_004006.3(DMD):c.683T>A (p.Ile228Asn) rs886043430 0.00001
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys) rs781054741 0.00001
NM_004006.2:c.6291-19932_6438+109877del
NM_004006.2:c.7098+17031_7201-8188del
NM_004006.3(DMD):c.10561C>A (p.Gln3521Lys)
NM_004006.3(DMD):c.10879A>G (p.Met3627Val) rs886044628
NM_004006.3(DMD):c.1992+1G>A
NM_004006.3(DMD):c.2219C>T (p.Ala740Val)
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter) rs756949497
NM_004006.3(DMD):c.31+7A>T
NM_004006.3(DMD):c.4294C>G (p.Gln1432Glu) rs1603632326
NM_004006.3(DMD):c.4633G>A (p.Val1545Ile)
NM_004006.3(DMD):c.4792T>C (p.Ser1598Pro)
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile) rs2147259228
NM_004006.3(DMD):c.6496G>A (p.Gly2166Arg) rs2095370321
NM_004006.3(DMD):c.7787_7788dup (p.Gly2597Ter)
NM_004006.3(DMD):c.8500A>G (p.Ile2834Val)
NM_004006.3:c.1482+7243_1602+5388del
NM_004006.3:c.6615-480_6913-24731del

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