List of variants in gene DMD reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 54

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)	rs147822019	0.00036
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)	rs369055628	0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val)	rs140510985	0.00008
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)	rs1057519106	0.00006
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)	rs145739725	0.00005
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)	rs199808421	0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu)	rs398123982	0.00005
NM_004006.3(DMD):c.104A>C (p.Gln35Pro)	rs1477107648	0.00002
NM_004006.3(DMD):c.10975G>A (p.Val3659Met)	rs768532317	0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His)	rs768990357	0.00002
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met)	rs1431604157	0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)	rs377039314	0.00002
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln)	rs201818335	0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)	rs746514008	0.00002
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)	rs935091512	0.00001
NM_004006.3(DMD):c.284G>T (p.Gly95Val)	rs1381812538	0.00001
NM_004006.3(DMD):c.2991C>T (p.Tyr997=)	rs863224992	0.00001
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)	rs770827878	0.00001
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)	rs752977828	0.00001
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg)	rs745462674	0.00001
NM_004006.3(DMD):c.5601A>C (p.Gln1867His)	rs1057519179	0.00001
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)	rs965718917	0.00001
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro)	rs2041036250
NM_004006.3(DMD):c.10085C>G (p.Pro3362Arg)	rs1569423459
NM_004006.3(DMD):c.10373G>A (p.Ser3458Asn)
NM_004006.3(DMD):c.10604G>T (p.Gly3535Val)	rs1555998259
NM_004006.3(DMD):c.1102A>G (p.Ile368Val)
NM_004006.3(DMD):c.1195A>G (p.Ile399Val)	rs2146821417
NM_004006.3(DMD):c.1211G>C (p.Ser404Thr)
NM_004006.3(DMD):c.1223G>T (p.Gly408Val)
NM_004006.3(DMD):c.1329C>T (p.Ser443=)	rs1060502631
NM_004006.3(DMD):c.1462C>A (p.Arg488Ser)	rs758932385
NM_004006.3(DMD):c.1583C>T (p.Ala528Val)	rs753624531
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)	rs145739725
NM_004006.3(DMD):c.2648T>G (p.Leu883Arg)
NM_004006.3(DMD):c.266T>C (p.Val89Ala)	rs1557058441
NM_004006.3(DMD):c.2981_2982delinsTA (p.Ser994Ile)
NM_004006.3(DMD):c.3229G>T (p.Ala1077Ser)
NM_004006.3(DMD):c.3611A>T (p.Lys1204Ile)	rs1603633687
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys)	rs1557359192
NM_004006.3(DMD):c.4292A>G (p.Asn1431Ser)
NM_004006.3(DMD):c.5128C>A (p.Pro1710Thr)
NM_004006.3(DMD):c.5278C>T (p.Leu1760Phe)
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)	rs376202643
NM_004006.3(DMD):c.5713G>C (p.Glu1905Gln)
NM_004006.3(DMD):c.5923-12T>G	rs2148596650
NM_004006.3(DMD):c.7009T>G (p.Leu2337Val)	rs1603513931
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)	rs1057521321
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser)	rs1569139778
NM_004006.3(DMD):c.8830G>A (p.Asp2944Asn)
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys)	rs769658853
NM_004006.3(DMD):c.9176G>C (p.Gly3059Ala)	rs2056577235
NM_004006.3(DMD):c.9602C>T (p.Thr3201Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.