ClinVar Miner

List of variants in gene CHST6 reported as uncertain significance for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
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.993G>T (p.Gln331His) rs140699573 0.00101
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.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.*4238A>G rs570273277 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.*2131C>T rs192587632 0.00013
NM_021615.5(CHST6):c.*4085C>T rs144466579 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.*2055del rs886052307 0.00009
NM_021615.5(CHST6):c.15C>T (p.Arg5=) rs762744897 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.392C>T (p.Ser131Leu) rs375059043 0.00003
NM_021615.5(CHST6):c.*1031A>G rs886052312 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.539A>G (p.Asn180Ser) rs773164615 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.*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.518T>C (p.Leu173Pro) rs763075517 0.00001
NM_021615.5(CHST6):c.708C>T (p.Asp236=) rs779128434 0.00001
NM_021615.5(CHST6):c.857C>T (p.Ala286Val) rs751949248 0.00001
NM_021615.5(CHST6):c.*1058G>T rs137868909
NM_021615.5(CHST6):c.*1374C>T rs564966292
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.*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.*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.*4494G>C rs2080042404
NM_021615.5(CHST6):c.*4573C>T rs138466889
NM_021615.5(CHST6):c.*4574G>C rs572586138
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.1096G>A (p.Glu366Lys) rs369592422
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
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.24C>T (p.Ser8=) rs1461106668
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
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.400G>A (p.Ala134Thr) rs745598168
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
NM_021615.5(CHST6):c.484C>A (p.Arg162=) 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.532T>G (p.Phe178Val) rs1567409280
NM_021615.5(CHST6):c.573C>G (p.Pro191=) rs1044185449
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser) rs547928453
NM_021615.5(CHST6):c.7C>A (p.Leu3Met) rs780317850
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) rs1443299574
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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