ClinVar Miner

List of variants studied for canthal anomaly by Service de Génétique Moléculaire,Hôpital Robert Debré

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 187
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HGVS dbSNP
NM_001354689.3(RAF1):c.1139T>C (p.Phe380Ser)
NM_001354689.3(RAF1):c.1201G>A (p.Asp401Asn) rs559632360
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) rs587782972
NM_001354689.3(RAF1):c.1478A>G (p.Asn493Ser)
NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) rs730881003
NM_001354689.3(RAF1):c.1492G>A (p.Glu498Lys)
NM_001354689.3(RAF1):c.1526T>C (p.Leu509Ser)
NM_001354689.3(RAF1):c.1527G>T (p.Leu509Phe) rs1553610155
NM_001354689.3(RAF1):c.220A>G (p.Asn74Asp)
NM_001354689.3(RAF1):c.293T>C (p.Val98Ala) rs763559779
NM_001354689.3(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_001354689.3(RAF1):c.767G>C (p.Arg256Thr)
NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) rs3730271
NM_001354689.3(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.784A>C (p.Asn262His)
NM_001354689.3(RAF1):c.913A>G (p.Ser305Gly) rs150054973
NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) rs1424449802
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) rs397516891
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1819T>G (p.Leu607Val)
NM_001374258.1(BRAF):c.1860T>C (p.Asn620=)
NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) rs727502904
NM_001374258.1(BRAF):c.2281T>G (p.Leu761Val)
NM_001374258.1(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_001374258.1(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) rs1570874751
NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.608A>G rs727503996
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.4(PTPN11):c.1468G>A (p.Val490Ile) rs781083623
NM_002834.4(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.171G>T (p.Gln57His)
NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)
NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.395A>C (p.His132Pro)
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) rs397507477
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser) rs1562931107
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.977T>C (p.Ile326Thr) rs368435578
NM_004985.5(KRAS):c.164T>G (p.Ile55Ser)
NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)
NM_004985.5(KRAS):c.451-5600G>C
NM_004985.5(KRAS):c.451-5642A>C
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.450+107_450+112dup
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) rs397517144
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005633.3(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.3(SOS1):c.1528T>C (p.Tyr510His) rs201404055
NM_005633.3(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.3(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.3197G>C (p.Ser1066Thr) rs1428068201
NM_005633.3(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471
NM_005633.3(SOS1):c.698A>G (p.Asn233Ser) rs144934321
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)
NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)
NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)
NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)
NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)
NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468
NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Phe772_Asp773insValLeu)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_007373.3(SHOC2):c.1231A>G (p.Thr411Ala) rs730881021
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) rs1599278009
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)

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