ClinVar Miner

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

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ClinVar version:
Total variants: 126
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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 0.00109
NM_013352.4(DSE):c.1173G>A (p.Leu391=) rs146663575 0.00050
NM_013352.4(DSE):c.1653G>A (p.Leu551=) rs147124340 0.00050
NM_013352.4(DSE):c.1004G>A (p.Arg335His) rs371480627 0.00029
NM_013352.4(DSE):c.910+8G>A rs372099501 0.00021
NM_013352.4(DSE):c.450G>A (p.Pro150=) rs773416085 0.00018
NM_013352.4(DSE):c.1221T>A (p.Pro407=) rs140103226 0.00015
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) rs181711422 0.00015
NM_013352.4(DSE):c.2727T>C (p.Ile909=) rs199742443 0.00015
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.1005T>A (p.Arg335=) rs375802351 0.00007
NM_013352.4(DSE):c.1860C>T (p.Asp620=) rs376227527 0.00007
NM_013352.4(DSE):c.102C>T (p.Pro34=) rs775878460 0.00006
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.2016G>A (p.Gln672=) rs772695668 0.00005
NM_013352.4(DSE):c.936G>A (p.Ala312=) rs543521325 0.00005
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.192C>T (p.His64=) rs143520218 0.00004
NM_013352.4(DSE):c.237G>A (p.Leu79=) rs750458397 0.00004
NM_013352.4(DSE):c.27C>A (p.Pro9=) rs777950323 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.1614A>T (p.Arg538=) rs761855554 0.00003
NM_013352.4(DSE):c.16C>A (p.Arg6=) rs778735094 0.00003
NM_013352.4(DSE):c.670+12C>T rs190922886 0.00003
NM_013352.4(DSE):c.681A>G (p.Gln227=) rs754860828 0.00003
NM_013352.4(DSE):c.69C>T (p.Tyr23=) rs186792234 0.00003
NM_013352.4(DSE):c.714C>T (p.Thr238=) rs577834283 0.00003
NM_013352.4(DSE):c.753G>A (p.Thr251=) rs769250716 0.00003
NM_013352.4(DSE):c.1170A>G (p.Thr390=) rs1369816665 0.00002
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.2766T>C (p.Tyr922=) rs148311424 0.00002
NM_013352.4(DSE):c.2850C>T (p.Tyr950=) rs751986225 0.00002
NM_013352.4(DSE):c.33G>A (p.Val11=) rs1415808640 0.00002
NM_013352.4(DSE):c.670+20A>G rs774637910 0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=) rs765697282 0.00002
NM_013352.4(DSE):c.910+9A>C rs889237042 0.00002
NM_013352.4(DSE):c.1197C>T (p.Val399=) rs760179823 0.00001
NM_013352.4(DSE):c.1278A>G (p.Ala426=) rs1253141581 0.00001
NM_013352.4(DSE):c.136C>T (p.Leu46=) rs754023509 0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=) rs757356537 0.00001
NM_013352.4(DSE):c.144C>T (p.Phe48=) rs562789659 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.1608C>T (p.Phe536=) rs764179730 0.00001
NM_013352.4(DSE):c.1635T>C (p.Tyr545=) rs139270200 0.00001
NM_013352.4(DSE):c.2031C>T (p.His677=) rs761096612 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.2622C>T (p.Gly874=) rs375483609 0.00001
NM_013352.4(DSE):c.2637G>A (p.Arg879=) rs1784224429 0.00001
NM_013352.4(DSE):c.2724C>T (p.Asn908=) rs750711471 0.00001
NM_013352.4(DSE):c.416+13C>T rs765373035 0.00001
NM_013352.4(DSE):c.447C>T (p.Val149=) rs768494599 0.00001
NM_013352.4(DSE):c.670+18C>T rs1308176186 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.910+10G>A rs773568843 0.00001
NM_013352.4(DSE):c.911-15A>G rs1232495093 0.00001
NM_013352.4(DSE):c.975A>G (p.Gln325=) rs1476434303 0.00001
NM_013352.4(DSE):c.1065A>G (p.Pro355=)
NM_013352.4(DSE):c.110A>T (p.Asn37Ile) rs371802983
NM_013352.4(DSE):c.1203T>A (p.Thr401=)
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) rs1583235798
NM_013352.4(DSE):c.1293C>A (p.Val431=) rs779729464
NM_013352.4(DSE):c.1323A>G (p.Lys441=) rs1430955958
NM_013352.4(DSE):c.1326A>G (p.Gly442=)
NM_013352.4(DSE):c.1407T>C (p.Thr469=) rs2482298926
NM_013352.4(DSE):c.1416G>T (p.Leu472=) rs2482299028
NM_013352.4(DSE):c.1620A>G (p.Glu540=) rs1180903363
NM_013352.4(DSE):c.162G>A (p.Ala54=)
NM_013352.4(DSE):c.1752G>A (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1752G>C (p.Ala584=) rs561665809
NM_013352.4(DSE):c.1791T>C (p.Thr597=)
NM_013352.4(DSE):c.1809T>C (p.His603=) rs2482302547
NM_013352.4(DSE):c.1839C>T (p.Leu613=)
NM_013352.4(DSE):c.1887C>T (p.Thr629=)
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.1929G>A (p.Gly643=)
NM_013352.4(DSE):c.1938T>C (p.Tyr646=) rs2482303796
NM_013352.4(DSE):c.1941G>A (p.Val647=)
NM_013352.4(DSE):c.201T>A (p.Ile67=) rs770953824
NM_013352.4(DSE):c.2049G>A (p.Leu683=)
NM_013352.4(DSE):c.207C>A (p.Ala69=)
NM_013352.4(DSE):c.2133G>A (p.Gln711=) rs2482305406
NM_013352.4(DSE):c.2196C>A (p.Val732=) rs1458018081
NM_013352.4(DSE):c.21G>C (p.Gly7=) rs748439156
NM_013352.4(DSE):c.231G>T (p.Thr77=)
NM_013352.4(DSE):c.2358T>C (p.Thr786=) rs781704477
NM_013352.4(DSE):c.2463T>G (p.Ala821=)
NM_013352.4(DSE):c.2619G>A (p.Gly873=) rs1202615477
NM_013352.4(DSE):c.2631A>G (p.Lys877=)
NM_013352.4(DSE):c.2646G>A (p.Gln882=) rs2115099368
NM_013352.4(DSE):c.264C>G (p.Pro88=) rs2482085209
NM_013352.4(DSE):c.276G>A (p.Lys92=)
NM_013352.4(DSE):c.27C>G (p.Pro9=)
NM_013352.4(DSE):c.2838A>G (p.Leu946=) rs1372320433
NM_013352.4(DSE):c.2847G>A (p.Leu949=)
NM_013352.4(DSE):c.2877G>A (p.Ter959=)
NM_013352.4(DSE):c.357C>T (p.Asn119=) rs1372958281
NM_013352.4(DSE):c.378C>T (p.Ala126=)
NM_013352.4(DSE):c.456T>C (p.Ala152=)
NM_013352.4(DSE):c.483T>G (p.Ala161=) rs1554226781
NM_013352.4(DSE):c.714C>G (p.Thr238=)
NM_013352.4(DSE):c.780G>T (p.Ala260=) rs765697282
NM_013352.4(DSE):c.78C>T (p.Asp26=) rs146524076
NM_013352.4(DSE):c.807C>T (p.Leu269=) rs1284748632
NM_013352.4(DSE):c.825C>A (p.Leu275=)
NM_013352.4(DSE):c.903C>T (p.Ile301=)
NM_013352.4(DSE):c.945T>C (p.Asn315=) rs2482284040
NM_013352.4(DSE):c.966A>G (p.Pro322=) rs2482284194
NM_013352.4(DSE):c.981G>A (p.Val327=) rs951430479

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