List of variants in gene DSE reported as likely benign for Ehlers-Danlos syndrome, musculocontractural type 2

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: 101

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HGVS	dbSNP	gnomAD frequency
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)	rs35363262	0.00180
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)	rs140975523	0.00153
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	rs61741781	0.00116
NM_013352.4(DSE):c.1173G>A (p.Leu391=)	rs146663575	0.00051
NM_013352.4(DSE):c.1653G>A (p.Leu551=)	rs147124340	0.00051
NM_013352.4(DSE):c.1004G>A (p.Arg335His)	rs371480627	0.00029
NM_013352.4(DSE):c.450G>A (p.Pro150=)	rs773416085	0.00019
NM_013352.4(DSE):c.2727T>C (p.Ile909=)	rs199742443	0.00017
NM_013352.4(DSE):c.1221T>A (p.Pro407=)	rs140103226	0.00016
NM_013352.4(DSE):c.910+20G>A	rs376761852	0.00015
NM_013352.4(DSE):c.240C>T (p.Ser80=)	rs143347973	0.00014
NM_013352.4(DSE):c.1383T>A (p.Ala461=)	rs200485959	0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=)	rs200780195	0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=)	rs370613241	0.00011
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)	rs535021192	0.00009
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)	rs181711422	0.00008
NM_013352.4(DSE):c.1860C>T (p.Asp620=)	rs376227527	0.00008
NM_013352.4(DSE):c.1005T>A (p.Arg335=)	rs375802351	0.00007
NM_013352.4(DSE):c.1419C>T (p.Tyr473=)	rs374010235	0.00006
NM_013352.4(DSE):c.600A>G (p.Gln200=)	rs150006874	0.00006
NM_013352.4(DSE):c.120C>T (p.Tyr40=)	rs75392879	0.00004
NM_013352.4(DSE):c.1737C>T (p.Pro579=)	rs765462761	0.00004
NM_013352.4(DSE):c.730C>T (p.Leu244=)	rs1041865456	0.00004
NM_013352.4(DSE):c.1140G>A (p.Ser380=)	rs756171586	0.00003
NM_013352.4(DSE):c.136C>T (p.Leu46=)	rs754023509	0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=)	rs769250716	0.00003
NM_013352.4(DSE):c.189G>A (p.Ser63=)	rs953029145	0.00002
NM_013352.4(DSE):c.2184G>A (p.Lys728=)	rs150939596	0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)	rs199731077	0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=)	rs762839207	0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=)	rs751986225	0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=)	rs765697282	0.00002
NM_013352.4(DSE):c.1278A>G (p.Ala426=)	rs1253141581	0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=)	rs757356537	0.00001
NM_013352.4(DSE):c.1491C>T (p.Pro497=)	rs768130032	0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=)	rs200018749	0.00001
NM_013352.4(DSE):c.243C>T (p.Ser81=)	rs780478969	0.00001
NM_013352.4(DSE):c.2580A>G (p.Leu860=)	rs1361177296	0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=)	rs750711471	0.00001
NM_013352.4(DSE):c.2766T>C (p.Tyr922=)	rs148311424	0.00001
NM_013352.4(DSE):c.416+13C>T	rs765373035	0.00001
NM_013352.4(DSE):c.670+12C>T	rs190922886	0.00001
NM_013352.4(DSE):c.75C>T (p.Thr25=)	rs752936676	0.00001
NM_013352.4(DSE):c.864G>A (p.Pro288=)	rs780424278	0.00001
NM_013352.4(DSE):c.885A>C (p.Ala295=)	rs1444681997	0.00001
NM_013352.4(DSE):c.911-15A>G	rs1232495093	0.00001
NM_013352.4(DSE):c.102C>T (p.Pro34=)
NM_013352.4(DSE):c.110A>T (p.Asn37Ile)	rs371802983
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
NM_013352.4(DSE):c.1197C>T (p.Val399=)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)	rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=)
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
NM_013352.4(DSE):c.144C>T (p.Phe48=)
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
NM_013352.4(DSE):c.16C>A (p.Arg6=)
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
NM_013352.4(DSE):c.1752G>C (p.Ala584=)	rs561665809
NM_013352.4(DSE):c.1809T>C (p.His603=)
NM_013352.4(DSE):c.1897G>A (p.Val633Met)	rs550208733
NM_013352.4(DSE):c.1911G>C (p.Arg637=)	rs2115096083
NM_013352.4(DSE):c.192C>T (p.His64=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
NM_013352.4(DSE):c.201T>A (p.Ile67=)
NM_013352.4(DSE):c.2031C>T (p.His677=)
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
NM_013352.4(DSE):c.2196C>A (p.Val732=)
NM_013352.4(DSE):c.21G>C (p.Gly7=)
NM_013352.4(DSE):c.2358T>C (p.Thr786=)	rs781704477
NM_013352.4(DSE):c.237G>A (p.Leu79=)
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
NM_013352.4(DSE):c.2646G>A (p.Gln882=)	rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=)
NM_013352.4(DSE):c.27C>A (p.Pro9=)
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
NM_013352.4(DSE):c.33G>A (p.Val11=)
NM_013352.4(DSE):c.357C>T (p.Asn119=)
NM_013352.4(DSE):c.447C>T (p.Val149=)
NM_013352.4(DSE):c.670+18C>T
NM_013352.4(DSE):c.670+20A>G
NM_013352.4(DSE):c.681A>G (p.Gln227=)
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
NM_013352.4(DSE):c.714C>T (p.Thr238=)
NM_013352.4(DSE):c.780G>T (p.Ala260=)
NM_013352.4(DSE):c.78C>T (p.Asp26=)	rs146524076
NM_013352.4(DSE):c.807C>T (p.Leu269=)
NM_013352.4(DSE):c.910+10G>A
NM_013352.4(DSE):c.910+8G>A
NM_013352.4(DSE):c.910+9A>C
NM_013352.4(DSE):c.945T>C (p.Asn315=)
NM_013352.4(DSE):c.966A>G (p.Pro322=)
NM_013352.4(DSE):c.975A>G (p.Gln325=)
NM_013352.4(DSE):c.981G>A (p.Val327=)	rs951430479

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