List of variants in gene DMD studied for Dystrophin deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 53

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HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.6614+26G>T	rs3761604	0.28231
NM_004006.3(DMD):c.9362-1149A>G	rs12389409	0.06658
NM_004006.3(DMD):c.960+50del	rs72470512	0.05999
NM_004006.3(DMD):c.93+5620A>T	rs56798145	0.04903
NM_004006.3(DMD):c.4344+17A>T	rs72468646	0.01496
NM_004006.3(DMD):c.94-3C>T	rs373907950	0.00018
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.1184G>A (p.Arg395Gln)	rs148511512	0.00006
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.10677T>C (p.Ile3559=)	rs765950547	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.4345-8C>T	rs886044675	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.5493A>G (p.Gly1831=)	rs1322285225	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.6363A>G (p.Thr2121=)	rs754658612	0.00001
NM_004006.3(DMD):c.6431A>T (p.Tyr2144Phe)	rs1569551376	0.00001
NM_004006.3(DMD):c.6553T>C (p.Leu2185=)	rs1326630806	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.10248G>A (p.Trp3416Ter)	rs376745644
NM_004006.3(DMD):c.1093C>G (p.Gln365Glu)	rs794726993
NM_004006.3(DMD):c.2331G>T (p.Leu777=)	rs369659071
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys)	rs1429329309
NM_004006.3(DMD):c.2804-6A>G	rs1305291348
NM_004006.3(DMD):c.2815T>C (p.Leu939=)	rs1603634302
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.4545_4549del (p.Val1515_Lys1516insTer)	rs398123962
NM_004006.3(DMD):c.468A>C (p.Val156=)	rs886044031
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.583C>T (p.Arg195Ter)	rs398123999
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.8390+2T>C	rs863225013
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)	rs1556656851
NM_004006.3(DMD):c.95T>C (p.Phe32Ser)	rs2080986752
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	rs398122853

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