ClinVar Miner

List of variants in gene CHST6 studied for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.*1967C>T rs42967 0.97576
NM_021615.5(CHST6):c.*5286A>T rs9923834 0.82602
NM_021615.5(CHST6):c.*5445G>A rs10871313 0.66442
NM_021615.5(CHST6):c.*242_*243insG rs11436257 0.58387
NM_021615.5(CHST6):c.*3819G>C rs8063068 0.54358
NM_021615.5(CHST6):c.*1919C>T rs7194035 0.52511
NM_021615.5(CHST6):c.*2024C>G rs7193828 0.52124
NM_021615.5(CHST6):c.*4305T>C rs11641249 0.51737
NM_021615.5(CHST6):c.*1566T>G rs4888432 0.50768
NM_021615.5(CHST6):c.*3742C>T rs56116092 0.47041
NM_021615.5(CHST6):c.*4366T>C rs37606 0.38416
NM_021615.5(CHST6):c.*2327C>T rs185053 0.19705
NM_021615.5(CHST6):c.*4086G>A rs12918234 0.15036
NM_021615.5(CHST6):c.*955C>T rs116535181 0.03535
NM_021615.5(CHST6):c.*2288T>G rs147960476 0.02929
NM_021615.5(CHST6):c.*3992T>C rs8063344 0.02920
NM_021615.5(CHST6):c.*3828A>T rs56769615 0.02061
NM_021615.5(CHST6):c.*1426C>A rs11861434 0.01725
NM_021615.5(CHST6):c.*2956G>A rs11860278 0.01509
NM_021615.5(CHST6):c.258A>C (p.Ala86=) rs61740901 0.01353
NM_021615.5(CHST6):c.*5441C>T rs74742116 0.01333
NM_021615.5(CHST6):c.-78T>C rs114012239 0.01207
NM_021615.5(CHST6):c.*377G>A rs138647317 0.01173
NM_021615.5(CHST6):c.*2955C>T rs76087215 0.01047
NM_021615.5(CHST6):c.120C>T (p.Arg40=) rs61740904 0.01016
NM_021615.5(CHST6):c.768C>T (p.Ala256=) rs146465655 0.00857
NM_021615.5(CHST6):c.*3883T>G rs138114811 0.00736
NM_021615.5(CHST6):c.*5187T>G rs28710075 0.00653
NM_021615.5(CHST6):c.*3621A>G rs139900788 0.00630
NM_021615.5(CHST6):c.*606G>A rs117741124 0.00621
NM_021615.5(CHST6):c.465G>A (p.Arg155=) rs141905571 0.00619
NM_021615.5(CHST6):c.294C>G (p.Ser98=) rs118144424 0.00618
NM_021615.5(CHST6):c.*2833T>G rs149981556 0.00595
NM_021615.5(CHST6):c.*991A>G rs142368532 0.00492
NM_021615.5(CHST6):c.*4155C>T rs114790233 0.00398
NM_021615.5(CHST6):c.129G>A (p.Val43=) rs112939575 0.00366
NM_021615.5(CHST6):c.*2426T>C rs142614349 0.00365
NM_021615.5(CHST6):c.*3465T>C rs76471046 0.00364
NM_021615.5(CHST6):c.666C>T (p.Asn222=) rs148529501 0.00284
NM_021615.5(CHST6):c.*1914A>G rs143764747 0.00259
NM_021615.5(CHST6):c.*3917G>A rs180746384 0.00250
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
NM_021615.5(CHST6):c.*3750C>A rs142693604 0.00220
NM_021615.5(CHST6):c.130C>T (p.Leu44=) rs140675009 0.00219
NM_021615.5(CHST6):c.*2947G>T rs112154704 0.00217
NM_021615.5(CHST6):c.*2210C>G rs111315694 0.00216
NM_021615.5(CHST6):c.*4291T>C rs72789420 0.00194
NM_021615.5(CHST6):c.*1810C>T rs111307793 0.00107
NM_021615.5(CHST6):c.*4880G>A rs76741848 0.00104
NM_021615.5(CHST6):c.993G>T (p.Gln331His) rs140699573 0.00101
NM_021615.5(CHST6):c.828G>A (p.Leu276=) rs140327212 0.00085
NM_021615.5(CHST6):c.*2417C>T rs188632926 0.00080
NM_021615.5(CHST6):c.*1526C>T rs148219139 0.00067
NM_021615.5(CHST6):c.*3815G>A rs563939196 0.00067
NM_021615.5(CHST6):c.*3441A>T rs529530566 0.00066
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg) rs189849720 0.00054
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr) rs79173362 0.00051
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly) rs142097284 0.00046
NM_021615.5(CHST6):c.*972C>A rs561639379 0.00041
NM_021615.5(CHST6):c.944G>A (p.Arg315His) rs140618049 0.00035
NM_021615.5(CHST6):c.*5011G>A rs540453877 0.00034
NM_021615.5(CHST6):c.*1316A>C rs773150182 0.00032
NM_021615.5(CHST6):c.*4586T>C rs535487354 0.00029
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser) rs201349198 0.00028
NM_021615.5(CHST6):c.*3547C>T rs540649676 0.00027
NM_021615.5(CHST6):c.*4444A>G rs1048250703 0.00027
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln) rs139042144 0.00025
NM_021615.5(CHST6):c.*4373dup rs775614448 0.00022
NM_021615.5(CHST6):c.*5208C>T rs867482636 0.00022
NM_021615.5(CHST6):c.*824G>A rs540252682 0.00022
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_021615.5(CHST6):c.*4238A>G rs570273277 0.00021
NM_021615.5(CHST6):c.*5197C>T rs554016597 0.00021
NM_021615.5(CHST6):c.*3082G>A rs150839584 0.00020
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) rs201743866 0.00018
NM_021615.5(CHST6):c.*3608A>C rs560765910 0.00016
NM_021615.5(CHST6):c.*4942C>T rs907270252 0.00016
NM_021615.5(CHST6):c.*522G>C rs770900838 0.00016
NM_021615.5(CHST6):c.301C>T (p.Leu101=) rs373160858 0.00016
NM_021615.5(CHST6):c.*5452G>C rs886052293 0.00015
NM_021615.5(CHST6):c.*1118A>G rs191429909 0.00014
NM_021615.5(CHST6):c.*2131C>T rs192587632 0.00013
NM_021615.5(CHST6):c.*4085C>T rs144466579 0.00013
NM_021615.5(CHST6):c.*435C>T rs375230497 0.00013
NM_021615.5(CHST6):c.*5150G>A rs777374430 0.00013
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) rs750027288 0.00011
NM_021615.5(CHST6):c.*4470C>T rs886052297 0.00010
NM_021615.5(CHST6):c.585A>G (p.Leu195=) rs138994371 0.00010
NM_021615.5(CHST6):c.*2055del rs886052307 0.00009
NM_021615.5(CHST6):c.15C>T (p.Arg5=) rs762744897 0.00009
NM_021615.5(CHST6):c.1A>T (p.Met1Leu) rs755563003 0.00009
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala) rs150880663 0.00008
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly) rs141965945 0.00007
NM_021615.5(CHST6):c.*106G>T rs958743404 0.00006
NM_021615.5(CHST6):c.*1758A>T rs571537815 0.00006
NM_021615.5(CHST6):c.*241C>T rs886052320 0.00006
NM_021615.5(CHST6):c.*2635G>A rs147675835 0.00006
NM_021615.5(CHST6):c.*4566A>G rs950574157 0.00006
NM_021615.5(CHST6):c.*5149C>T rs192151525 0.00006
NM_021615.5(CHST6):c.*2503G>A rs534652248 0.00005
NM_021615.5(CHST6):c.*3297C>T rs891021575 0.00005
NM_021615.5(CHST6):c.*3516T>C rs886052300 0.00005
NM_021615.5(CHST6):c.*712G>A rs565082451 0.00005
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe) rs756399261 0.00005
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) rs753928736 0.00005
NM_021615.5(CHST6):c.918C>T (p.Ile306=) rs576445739 0.00005
NM_021615.5(CHST6):c.*1295T>C rs886052311 0.00004
NM_021615.5(CHST6):c.*139A>G rs149297341 0.00004
NM_021615.5(CHST6):c.*2652C>T rs548748758 0.00004
NM_021615.5(CHST6):c.*3490T>C rs886052301 0.00004
NM_021615.5(CHST6):c.*3811A>C rs776294697 0.00004
NM_021615.5(CHST6):c.*588T>G rs886052316 0.00004
NM_021615.5(CHST6):c.*818G>A rs999743468 0.00004
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro) rs760172031 0.00004
NM_021615.5(CHST6):c.*164G>T rs901651645 0.00003
NM_021615.5(CHST6):c.*2836T>C rs886052303 0.00003
NM_021615.5(CHST6):c.*2962G>A rs557307672 0.00003
NM_021615.5(CHST6):c.*3602C>T rs576234551 0.00003
NM_021615.5(CHST6):c.*687C>A rs886052315 0.00003
NM_021615.5(CHST6):c.*751C>T rs780235353 0.00003
NM_021615.5(CHST6):c.1113C>G (p.Ala371=) rs763307252 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu) rs375059043 0.00003
NM_021615.5(CHST6):c.789T>C (p.Phe263=) rs200988630 0.00003
NM_021615.5(CHST6):c.*1031A>G rs886052312 0.00002
NM_021615.5(CHST6):c.*1377G>A rs140231054 0.00002
NM_021615.5(CHST6):c.*13T>C rs750212631 0.00002
NM_021615.5(CHST6):c.*1407C>G rs117273298 0.00002
NM_021615.5(CHST6):c.*3240A>G rs1022400619 0.00002
NM_021615.5(CHST6):c.*4970T>C rs886052295 0.00002
NM_021615.5(CHST6):c.1167C>T (p.Thr389=) rs746231082 0.00002
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser) rs773164615 0.00002
NM_021615.5(CHST6):c.621G>A (p.Val207=) rs775009315 0.00002
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter) rs886052321 0.00002
NM_021615.5(CHST6):c.897C>G (p.Leu299=) rs749119225 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_021615.5(CHST6):c.*1324C>T rs886052310 0.00001
NM_021615.5(CHST6):c.*1652G>A rs1178270623 0.00001
NM_021615.5(CHST6):c.*1836G>A rs1441816484 0.00001
NM_021615.5(CHST6):c.*2050G>A rs1037087194 0.00001
NM_021615.5(CHST6):c.*2770T>G rs1597468602 0.00001
NM_021615.5(CHST6):c.*4003T>C rs942544702 0.00001
NM_021615.5(CHST6):c.*4325A>G rs1454981481 0.00001
NM_021615.5(CHST6):c.*4497G>A rs886052296 0.00001
NM_021615.5(CHST6):c.*4589C>T rs756919146 0.00001
NM_021615.5(CHST6):c.*5465C>T rs541989548 0.00001
NM_021615.5(CHST6):c.*794A>C rs886052314 0.00001
NM_021615.5(CHST6):c.*984G>C rs886052313 0.00001
NM_021615.5(CHST6):c.-21C>A rs886052322 0.00001
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu) rs751005101 0.00001
NM_021615.5(CHST6):c.1101G>A (p.Gln367=) rs1182017136 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys) rs72547544 0.00001
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro) rs763075517 0.00001
NM_021615.5(CHST6):c.708C>T (p.Asp236=) rs779128434 0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) rs121917824 0.00001
NM_021615.5(CHST6):c.857C>T (p.Ala286Val) rs751949248 0.00001
NM_021615.5(CHST6):c.*1047G>T rs77687996
NM_021615.5(CHST6):c.*1058G>A rs137868909
NM_021615.5(CHST6):c.*1058G>T rs137868909
NM_021615.5(CHST6):c.*1374C>T rs564966292
NM_021615.5(CHST6):c.*1375G>A rs116020927
NM_021615.5(CHST6):c.*1474C>G rs886052309
NM_021615.5(CHST6):c.*1585G>T rs886052308
NM_021615.5(CHST6):c.*1597T>G rs866541400
NM_021615.5(CHST6):c.*1811G>A rs577093724
NM_021615.5(CHST6):c.*1892del rs35225560
NM_021615.5(CHST6):c.*2080del rs36092135
NM_021615.5(CHST6):c.*242T>C rs886052319
NM_021615.5(CHST6):c.*2433A>C rs886052305
NM_021615.5(CHST6):c.*2437C>T rs886052304
NM_021615.5(CHST6):c.*2450C>G rs769668563
NM_021615.5(CHST6):c.*2902dup rs886052302
NM_021615.5(CHST6):c.*3078G>A rs375112875
NM_021615.5(CHST6):c.*3223CT[1] rs5817947
NM_021615.5(CHST6):c.*3364C>A rs189970730
NM_021615.5(CHST6):c.*33G>C rs376468061
NM_021615.5(CHST6):c.*3643_*3644del rs563605488
NM_021615.5(CHST6):c.*3656C>A rs2080051726
NM_021615.5(CHST6):c.*3679T>C rs886052299
NM_021615.5(CHST6):c.*3814C>G rs552475714
NM_021615.5(CHST6):c.*3947C>T rs564522593
NM_021615.5(CHST6):c.*3983G>A rs1051764829
NM_021615.5(CHST6):c.*4290A>C rs886052298
NM_021615.5(CHST6):c.*4460T>G rs2080042971
NM_021615.5(CHST6):c.*4487C>T rs182168641
NM_021615.5(CHST6):c.*4494G>C rs2080042404
NM_021615.5(CHST6):c.*4573C>T rs138466889
NM_021615.5(CHST6):c.*4574G>C rs572586138
NM_021615.5(CHST6):c.*4605C>T rs150105169
NM_021615.5(CHST6):c.*472G>C rs886052318
NM_021615.5(CHST6):c.*4749G>T rs184112375
NM_021615.5(CHST6):c.*488_*490del rs886052317
NM_021615.5(CHST6):c.*4981C>T rs532430246
NM_021615.5(CHST6):c.*5182C>G rs1008334355
NM_021615.5(CHST6):c.*5183G>A rs886052294
NM_021615.5(CHST6):c.*5190T>A rs2080036320
NM_021615.5(CHST6):c.*5311T>C rs2080035371
NM_021615.5(CHST6):c.*68G>T rs968538456
NM_021615.5(CHST6):c.-66C>G rs886052323
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys) rs745660697
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)
NM_021615.5(CHST6):c.1071C>A (p.Gly357=)
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys) rs369592422
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
NM_021615.5(CHST6):c.132G>A (p.Leu44=)
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro) rs1438351052
NM_021615.5(CHST6):c.196G>C (p.Val66Leu) rs72547547
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln) rs999246452
NM_021615.5(CHST6):c.24C>T (p.Ser8=) rs1461106668
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
NM_021615.5(CHST6):c.290_293dup (p.Val99fs)
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn) rs2151666243
NM_021615.5(CHST6):c.323A>T (p.Asp108Val)
NM_021615.5(CHST6):c.355G>C (p.Asp119His) rs2080111143
NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr) rs745598168
NM_021615.5(CHST6):c.418C>T (p.Arg140Ter)
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)
NM_021615.5(CHST6):c.484C>A (p.Arg162=) rs117435647
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly) rs117435647
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser) rs2080109094
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg) rs28937877
NM_021615.5(CHST6):c.522G>A (p.Lys174=)
NM_021615.5(CHST6):c.532T>G (p.Phe178Val) rs1567409280
NM_021615.5(CHST6):c.573C>G (p.Pro191=) rs1044185449
NM_021615.5(CHST6):c.573dup (p.Ala192fs)
NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del)
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu) rs28937878
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)
NM_021615.5(CHST6):c.632G>A (p.Arg211Gln)
NM_021615.5(CHST6):c.6_7delinsAA (p.Trp2_Leu3delinsTer)
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser) rs547928453
NM_021615.5(CHST6):c.729C>T (p.Arg243=) rs916401556
NM_021615.5(CHST6):c.7C>A (p.Leu3Met) rs780317850
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) rs1443299574
NM_021615.5(CHST6):c.912T>C (p.His304=)
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
NM_021615.5(CHST6):c.987C>T (p.Val329=) rs369751938
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)

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