ClinVar Miner

List of variants studied for Spondyloepiphyseal dysplasia with congenital joint dislocations by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*2349A>G rs4148948 0.70000
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_004273.5(CHST3):c.*4533C>T rs730720 0.43618
NM_004273.5(CHST3):c.*4107T>C rs731027 0.43607
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39114
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36267
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34471
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19290
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_004273.5(CHST3):c.*4421G>C rs730722 0.08333
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04479
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04476
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03692
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03519
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01973
NM_004273.5(CHST3):c.-274G>T rs146305825 0.01897
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01117
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_004273.5(CHST3):c.*2170T>G rs79099269 0.00918
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00772
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00761
NM_004273.5(CHST3):c.*3301G>A rs75962504 0.00729
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00498
NM_004273.5(CHST3):c.*4633G>T rs117714459 0.00456
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00444
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00348
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00348
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00286
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00197
NM_004273.5(CHST3):c.*2869G>A rs556516377 0.00194
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_004273.5(CHST3):c.*4359A>G rs145151652 0.00098
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00091
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00090
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00070
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00070
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_004273.5(CHST3):c.*1762C>G rs547917558 0.00064
NM_004273.5(CHST3):c.*2464C>G rs117578356 0.00064
NM_004273.5(CHST3):c.*4300G>A rs141062797 0.00055
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00048
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00043
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00042
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00041
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_004273.5(CHST3):c.*2856G>A rs747937392 0.00033
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00033
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00033
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00031
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00025
NM_004273.5(CHST3):c.*3391A>C rs564572994 0.00025
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00025
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_004273.5(CHST3):c.*1726C>T rs573032793 0.00018
NM_004273.5(CHST3):c.*3272C>T rs539580815 0.00017
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00015
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00014
NM_004273.5(CHST3):c.*1811C>T rs894415519 0.00013
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00013
NM_004273.5(CHST3):c.*3040G>A rs550027128 0.00012
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00012
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00012
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00009
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004273.5(CHST3):c.-98G>A rs539958310 0.00008
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.*2830G>A rs940040640 0.00007
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*1385T>C rs757821498 0.00006
NM_004273.5(CHST3):c.*4556A>G rs745789120 0.00006
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004273.5(CHST3):c.*2728C>T rs1282105404 0.00004
NM_004273.5(CHST3):c.*2895G>A rs1000522642 0.00004
NM_004273.5(CHST3):c.*3811C>T rs989263395 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_004273.5(CHST3):c.*4156A>T rs774773819 0.00004
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004273.5(CHST3):c.*1399T>C rs562405951 0.00003
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*238G>A rs543236876 0.00003
NM_004273.5(CHST3):c.*2535C>T rs746330162 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4523A>G rs1280459396 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*2845G>C rs932565615 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1453G>A rs1840091934 0.00001
NM_004273.5(CHST3):c.*1496C>A rs538070743 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2257G>A rs758665372 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*3340A>G rs1018806913 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*5026C>T rs1840133812 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.-300C>G rs1469041878 0.00001
NM_004273.5(CHST3):c.1327G>A (p.Ala443Thr) rs764953708 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1212C>G rs866928391
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*1608C>T rs1840094081
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*2349A>C rs4148948
NM_004273.5(CHST3):c.*2352G>T rs544408735
NM_004273.5(CHST3):c.*2484A>G rs1840104088
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*2717C>T rs555301573
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*2810C>A rs1840107728
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*3542A>G rs1840115763
NM_004273.5(CHST3):c.*3633C>T rs1840116651
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3706G>A rs1471803578
NM_004273.5(CHST3):c.*3877A>G rs1840120030
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.*3961T>C rs1840121287
NM_004273.5(CHST3):c.*4108G>A rs1840122795
NM_004273.5(CHST3):c.*4265T>G rs1840124387
NM_004273.5(CHST3):c.*4580G>A rs1237981753
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*4886G>C rs761110067
NM_004273.5(CHST3):c.*57G>T rs760264135
NM_004273.5(CHST3):c.*66G>T rs55939908
NM_004273.5(CHST3):c.*710G>T rs190298233
NM_004273.5(CHST3):c.*786G>C rs906037991
NM_004273.5(CHST3):c.*900C>T rs1840084420
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.*969A>C rs571247438
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.-164C>T rs1335747560
NM_004273.5(CHST3):c.-270del rs538907004
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143

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