List of variants reported as uncertain significance for corneal disorder by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 170

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HGVS	dbSNP	gnomAD frequency
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.944G>A (p.Arg315His)	rs140618049	0.00035
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)	rs201039175	0.00031
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_012293.3(PXDN):c.3862G>A (p.Val1288Met)	rs183629867	0.00024
NM_001368894.2(PAX6):c.807+5C>T	rs376564909	0.00014
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp)	rs373022614	0.00014
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)	rs146433004	0.00013
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met)	rs370226454	0.00013
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)	rs371739601	0.00013
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met)	rs772632642	0.00012
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)	rs750027288	0.00011
NM_001368894.2(PAX6):c.958+4A>T	rs765926181	0.00008
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala)	rs150880663	0.00008
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu)	rs372395551	0.00006
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)	rs995348999	0.00005
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe)	rs756399261	0.00005
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His)	rs368890003	0.00004
NM_012293.3(PXDN):c.1680+6C>T	rs930569592	0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu)	rs748447804	0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)	rs577701184	0.00004
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro)	rs760172031	0.00004
NM_001368894.2(PAX6):c.807+6G>A	rs375134684	0.00003
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu)	rs575642508	0.00003
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)	rs376902965	0.00003
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser)	rs141021880	0.00002
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu)	rs759150602	0.00002
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)	rs769037467	0.00002
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)	rs567182921	0.00002
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)	rs749992296	0.00001
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile)	rs1361659182	0.00001
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu)	rs1411880763	0.00001
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln)	rs780115865	0.00001
NM_001368894.2(PAX6):c.1282A>G (p.Met428Val)	rs541260494	0.00001
NM_012293.3(PXDN):c.1650C>T (p.Gly550=)	rs753678349	0.00001
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)	rs755097189	0.00001
NM_012293.3(PXDN):c.1885G>A (p.Val629Met)	rs770134392	0.00001
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln)	rs748238090	0.00001
NM_012293.3(PXDN):c.2369A>T (p.His790Leu)	rs1682956712	0.00001
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe)	rs757055936	0.00001
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_000002.11:g.(?_1748008)_(1748227_?)dup
NM_001368894.2(PAX6):c.-120_-118dup
NM_001368894.2(PAX6):c.-52+1del	rs1955943115
NM_001368894.2(PAX6):c.10+5G>T
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
NM_001368894.2(PAX6):c.1074+4A>G
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)	rs1346292898
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)
NM_001368894.2(PAX6):c.1166dup (p.His390fs)	rs756801119
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)	rs1230504203
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
NM_001368894.2(PAX6):c.141+3G>A
NM_001368894.2(PAX6):c.141+3G>C	rs369243018
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)	rs2135147324
NM_001368894.2(PAX6):c.184-3C>T	rs2135101861
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)	rs1190491499
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu)	rs1953954636
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser)	rs2135097990
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys)	rs1565239425
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu)	rs886042622
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala)	rs2135095172
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu)	rs2135091755
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
NM_001368894.2(PAX6):c.399+3A>T	rs2135086830
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)	rs1231578758
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)	rs201983312
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)	rs1299258202
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)	rs1592530260
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)	rs954552997
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)	rs1592529768
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)	rs1131692308
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr)	rs1049560370
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)	rs2135152943
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)	rs541894561
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)	rs1954533614
NM_001368894.2(PAX6):c.724+20T>C
NM_001368894.2(PAX6):c.724+3G>A
NM_001368894.2(PAX6):c.724+8_724+9del
NM_001368894.2(PAX6):c.725-14A>G
NM_001368894.2(PAX6):c.725-8T>A
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)	rs2134611494
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg)	rs2134610066
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu)	rs779126789
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)	rs1326972158
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)	rs1954518916
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser)	rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile)	rs773445177
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys)	rs2125412247
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg)	rs769171499
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu)	rs2125500995
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)	rs367602205
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
NM_019040.5(ELP4):c.2022_2023del	rs777790874
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
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.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.485G>A (p.Arg162Gln)
NM_021615.5(CHST6):c.532T>G (p.Phe178Val)	rs1567409280
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)

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