ClinVar Miner

List of variants reported as uncertain significance for canthal anomaly by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000014.9:g.(?_50188487)_(50204419_?)dup
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.131T>C (p.Ile44Thr) rs142897396
NM_001360.2(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993
NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.412+3A>G rs786200926
NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) rs373121544
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro)
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys)
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser)
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del)
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600
NM_006270.5(RRAS):c.241+5G>A
NM_006270.5(RRAS):c.241+6G>A
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420
NM_006270.5(RRAS):c.344+6_344+7del
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)
NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu)
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.163+5G>T
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.649del (p.Ser217fs)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
NM_006939.4(SOS2):c.1331T>C (p.Met444Thr)
NM_006939.4(SOS2):c.133_136del (p.Leu45fs)
NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr) rs1594973893
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His) rs778281839
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2385-3T>C
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala) rs750095346
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
NM_006939.4(SOS2):c.2668-5T>C
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln) rs777574895
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala)
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
NM_006939.4(SOS2):c.3076-3C>T
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln) rs1409054252
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu) rs1442962879
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3338-6C>G
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu)
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
NM_006939.4(SOS2):c.346-3C>T
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu)
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu) rs1594951526
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
NM_006939.4(SOS2):c.390T>G (p.Ile130Met)
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.432G>A (p.Leu144=) rs1051166055
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln)
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr)
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
NM_006939.4(SOS2):c.523A>C (p.Met175Leu)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
NM_006939.4(SOS2):c.572C>A (p.Pro191His)
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=) rs750665891
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser) rs530007285
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.