ClinVar Miner

List of variants reported as benign for canthal anomaly by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1069C>T (p.Pro357Ser) rs143519179
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1440T>C (p.Asp480=) rs142758482
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1857T>G (p.Ser619Arg) rs140334121
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
NM_000356.4(TCOF1):c.3108G>A (p.Gln1036=) rs147074393
NM_000356.4(TCOF1):c.3195C>T (p.Ser1065=) rs138291748
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.3865A>C (p.Lys1289Gln) rs201234047
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.503C>T (p.Thr168Met) rs181203524
NM_000356.4(TCOF1):c.534C>T (p.Ser178=) rs141250614
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.126C>T (p.Ser42=) rs150928869
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.549C>T (p.Cys183=) rs115446684
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
NM_001360.3(DHCR7):c.964-8dup
NM_001360.3(DHCR7):c.99-10G>A rs189549129
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.454-10C>G rs731861
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194
NM_006912.6(RIT1):c.430-7C>T rs1749409
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2162-4C>A rs57179949
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415
NM_006939.4(SOS2):c.2668-4T>C rs763298498
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190
NM_006939.4(SOS2):c.346-10C>G rs146395803
NM_006939.4(SOS2):c.3490-13_3490-11dup
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg)
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006939.4(SOS2):c.858+9A>G rs201701595
NM_006939.4(SOS2):c.859-4del
NM_006939.4(SOS2):c.88-6T>C rs12888783
NM_022464.5(SIL1):c.1029+6T>C rs57028146
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568
NM_022464.5(SIL1):c.454-6C>T rs58624842
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511
NM_022464.5(SIL1):c.865-7C>T rs141796576
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367

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