ClinVar Miner

List of variants studied for corneal dystrophy by Invitae

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.258A>C (p.Ala86=) rs61740901 0.01353
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.465G>A (p.Arg155=) rs141905571 0.00619
NM_021615.5(CHST6):c.294C>G (p.Ser98=) rs118144424 0.00618
NM_021615.5(CHST6):c.129G>A (p.Val43=) rs112939575 0.00366
NM_021615.5(CHST6):c.666C>T (p.Asn222=) rs148529501 0.00284
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
NM_021615.5(CHST6):c.130C>T (p.Leu44=) rs140675009 0.00219
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.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.944G>A (p.Arg315His) rs140618049 0.00035
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser) rs201349198 0.00028
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln) rs139042144 0.00025
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) rs201743866 0.00018
NM_021615.5(CHST6):c.301C>T (p.Leu101=) rs373160858 0.00016
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) rs750027288 0.00011
NM_021615.5(CHST6):c.585A>G (p.Leu195=) rs138994371 0.00010
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.500C>T (p.Ser167Phe) rs756399261 0.00005
NM_021615.5(CHST6):c.918C>T (p.Ile306=) rs576445739 0.00005
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro) rs760172031 0.00004
NM_021615.5(CHST6):c.789T>C (p.Phe263=) rs200988630 0.00003
NM_021615.5(CHST6):c.1167C>T (p.Thr389=) rs746231082 0.00002
NM_021615.5(CHST6):c.621G>A (p.Val207=) rs775009315 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.1099C>G (p.Gln367Glu) rs751005101 0.00001
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro) rs763075517 0.00001
NC_000016.9:g.(?_74748068)_(75513746_?)del
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
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.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.400G>A (p.Ala134Thr) rs745598168
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly) rs117435647
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)
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.601_621del (p.Val201_Val207del)
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
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.729C>T (p.Arg243=) rs916401556
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021615.5(CHST6):c.912T>C (p.His304=)
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)

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