ClinVar Miner

List of variants in gene DMD reported by Kariminejad - Najmabadi Pathology & Genetics Center

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.10033_10034insTT (p.Arg3345fs)
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10453_10454insA (p.Leu3485fs) rs2148184147
NM_004006.3(DMD):c.10594G>T (p.Glu3532Ter)
NM_004006.3(DMD):c.10604G>C (p.Gly3535Ala)
NM_004006.3(DMD):c.1083_1090del (p.Leu362fs) rs2146833477
NM_004006.3(DMD):c.1190del (p.Gly397fs) rs2146821542
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.1975G>T (p.Glu659Ter) rs748567438
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter) rs398123872
NM_004006.3(DMD):c.2328del (p.Lys776fs) rs2148691292
NM_004006.3(DMD):c.2353C>T (p.Gln785Ter) rs2148691015
NM_004006.3(DMD):c.2479G>T (p.Glu827Ter) rs794727323
NM_004006.3(DMD):c.2584G>T (p.Glu862Ter) rs2042975774
NM_004006.3(DMD):c.2698A>T (p.Lys900Ter) rs2148583763
NM_004006.3(DMD):c.2804-1del rs1557374667
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter) rs398123912
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3314dup (p.Asn1106fs) rs2148419527
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter) rs1569563678
NM_004006.3(DMD):c.3513del (p.Glu1171fs)
NM_004006.3(DMD):c.3631_3632del (p.Glu1211fs)
NM_004006.3(DMD):c.4643T>A (p.Leu1548Ter) rs2147557663
NM_004006.3(DMD):c.4697del (p.Leu1566fs) rs2147472674
NM_004006.3(DMD):c.4839G>A (p.Trp1613Ter)
NM_004006.3(DMD):c.4945dup (p.Val1649fs)
NM_004006.3(DMD):c.5503C>T (p.Gln1835Ter) rs1225638867
NM_004006.3(DMD):c.6576G>A (p.Trp2192Ter) rs764789298
NM_004006.3(DMD):c.6986dup (p.Leu2330fs) rs398124040
NM_004006.3(DMD):c.8297del (p.Leu2766fs) rs2147176710
NM_004006.3(DMD):c.831G>T (p.Gln277His) rs398124067
NM_004006.3(DMD):c.8601dup (p.Thr2868fs) rs2149257286
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter) rs2065150560
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.93+1G>A rs886042604
Single allele

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