ClinVar Miner

List of variants studied for canthal anomaly by OMIM

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP
DHCR7, 1-BP INS, 505C
DHCR7, 1-BP INS, 586T
DHCR7, 96-BP DEL
DHCR7, TRP37TER
MID1, 24-BP DUP
MID1, EX1 DUP
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.412+3A>T rs786200926
NM_001360.2(DHCR7):c.453G>A (p.Trp151Ter) rs104894213
NM_001360.2(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.2(DHCR7):c.744G>T (p.Trp248Cys) rs104894212
NM_001360.2(DHCR7):c.832-1G>C rs80338863
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg)
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
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.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) rs786201030
NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031
NM_015972.4(POLR1D):c.139G>A (p.Glu47Lys) rs767196650
NM_015972.4(POLR1D):c.152T>G (p.Leu51Arg) rs1593275448
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_015972.4(POLR1D):c.259C>T (p.Arg87Ter) rs1593275599
NM_015972.4(POLR1D):c.262_263dup (p.Thr89fs) rs1593275616
NM_015972.4(POLR1D):c.88_89dup (p.Gln31fs) rs1593275363
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) rs104893739
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, 1-BP DEL, 87T
POLR1C, IVS8, 4-BP DEL, +3
POLR1D, 2-BP DEL, 326CA
nsv1197592

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