ClinVar Miner

List of variants reported as likely benign for canthal anomaly by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.3262G>C (p.Gly1088Arg) rs141095369
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu) rs148367422
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) rs369382960
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1134C>T (p.Ile378=) rs773505265
NM_001360.2(DHCR7):c.1152C>T (p.Ser384=) rs145084285
NM_001360.2(DHCR7):c.1155C>T (p.Ala385=) rs777517985
NM_001360.2(DHCR7):c.123G>A (p.Ala41=) rs376263149
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1389C>T (p.Thr463=) rs200477386
NM_001360.2(DHCR7):c.139C>T (p.Leu47=) rs140721259
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.159C>T (p.Ile53=) rs752952700
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.198C>T (p.Cys66=) rs775127532
NM_001360.2(DHCR7):c.288C>T (p.Ala96=) rs745595242
NM_001360.2(DHCR7):c.318C>T (p.Phe106=) rs1386646132
NM_001360.2(DHCR7):c.375C>T (p.Tyr125=) rs779401555
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
NM_001360.2(DHCR7):c.582C>T (p.Phe194=) rs150603941
NM_001360.2(DHCR7):c.615C>T (p.Ser205=) rs561379509
NM_001360.2(DHCR7):c.69C>T (p.Thr23=) rs199798127
NM_001360.2(DHCR7):c.709C>T (p.Leu237=) rs755941916
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.723G>T (p.Gly241=) rs369654651
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.771G>A (p.Ala257=) rs200232012
NM_001360.2(DHCR7):c.795T>C (p.His265=) rs1472363309
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.882C>T (p.Thr294=) rs748858240
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.957G>A (p.Thr319=) rs200157761
NM_001360.2(DHCR7):c.99-5C>T rs372886043
NM_001360.3(DHCR7):c.1002C>A (p.Thr334=)
NM_001360.3(DHCR7):c.1017C>T (p.Gly339=) rs774757811
NM_001360.3(DHCR7):c.1020C>T (p.Val340=)
NM_001360.3(DHCR7):c.1056G>T (p.Arg352=)
NM_001360.3(DHCR7):c.1086C>T (p.Arg362=)
NM_001360.3(DHCR7):c.1146C>T (p.Tyr382=)
NM_001360.3(DHCR7):c.1188G>A (p.Val396=)
NM_001360.3(DHCR7):c.1191G>C (p.Ser397=)
NM_001360.3(DHCR7):c.1209C>T (p.Ala403=) rs1321822921
NM_001360.3(DHCR7):c.1224C>T (p.Tyr408=)
NM_001360.3(DHCR7):c.1227C>T (p.Val409=) rs1012396683
NM_001360.3(DHCR7):c.1234C>T (p.Leu412=) rs1591107212
NM_001360.3(DHCR7):c.1269C>A (p.Gly423=)
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=) rs145374203
NM_001360.3(DHCR7):c.1287C>T (p.Pro429=)
NM_001360.3(DHCR7):c.1290C>T (p.Tyr430=)
NM_001360.3(DHCR7):c.1299C>T (p.Ile433=)
NM_001360.3(DHCR7):c.1314C>T (p.Ile438=) rs778750039
NM_001360.3(DHCR7):c.1315C>T (p.Leu439=)
NM_001360.3(DHCR7):c.1353C>T (p.Cys451=) rs951313798
NM_001360.3(DHCR7):c.1392C>T (p.Ala464=)
NM_001360.3(DHCR7):c.1408C>T (p.Leu470=)
NM_001360.3(DHCR7):c.1416T>G (p.Pro472=)
NM_001360.3(DHCR7):c.147C>T (p.Phe49=) rs771419549
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551
NM_001360.3(DHCR7):c.213T>C (p.Pro71=)
NM_001360.3(DHCR7):c.21C>G (p.Pro7=)
NM_001360.3(DHCR7):c.21C>T (p.Pro7=)
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484
NM_001360.3(DHCR7):c.237T>C (p.His79=)
NM_001360.3(DHCR7):c.261C>A (p.Ala87=) rs1404109723
NM_001360.3(DHCR7):c.273T>A (p.Pro91=) rs772671149
NM_001360.3(DHCR7):c.273T>C (p.Pro91=)
NM_001360.3(DHCR7):c.279G>A (p.Thr93=)
NM_001360.3(DHCR7):c.282G>A (p.Arg94=) rs541593878
NM_001360.3(DHCR7):c.291C>T (p.Ala97=)
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.321+8G>T
NM_001360.3(DHCR7):c.321+8del
NM_001360.3(DHCR7):c.321+9C>T rs1591113228
NM_001360.3(DHCR7):c.322-7G>A rs1359774813
NM_001360.3(DHCR7):c.324G>A (p.Val108=)
NM_001360.3(DHCR7):c.336G>A (p.Thr112=) rs759750125
NM_001360.3(DHCR7):c.369C>G (p.Pro123=)
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001360.3(DHCR7):c.36C>T (p.Ala12=)
NM_001360.3(DHCR7):c.442C>T (p.Leu148=)
NM_001360.3(DHCR7):c.45A>G (p.Leu15=)
NM_001360.3(DHCR7):c.462G>T (p.Thr154=) rs1203189676
NM_001360.3(DHCR7):c.465C>T (p.His155=)
NM_001360.3(DHCR7):c.483C>T (p.Asn161=) rs750628746
NM_001360.3(DHCR7):c.492C>G (p.Leu164=)
NM_001360.3(DHCR7):c.492C>T (p.Leu164=)
NM_001360.3(DHCR7):c.507G>A (p.Ser169=)
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
NM_001360.3(DHCR7):c.534C>T (p.Ile178=) rs1349721227
NM_001360.3(DHCR7):c.543G>C (p.Leu181=)
NM_001360.3(DHCR7):c.570C>G (p.Ala190=)
NM_001360.3(DHCR7):c.579C>G (p.Thr193=) rs778664009
NM_001360.3(DHCR7):c.585C>T (p.Ala195=)
NM_001360.3(DHCR7):c.627-4T>A
NM_001360.3(DHCR7):c.627-9A>G
NM_001360.3(DHCR7):c.669C>T (p.Ile223=)
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807
NM_001360.3(DHCR7):c.714C>T (p.Phe238=)
NM_001360.3(DHCR7):c.726C>T (p.Arg242=)
NM_001360.3(DHCR7):c.735C>A (p.Ile245=)
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.747C>G (p.Thr249=)
NM_001360.3(DHCR7):c.750C>G (p.Leu250=)
NM_001360.3(DHCR7):c.753C>T (p.Ile251=)
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007
NM_001360.3(DHCR7):c.783G>A (p.Glu261=)
NM_001360.3(DHCR7):c.822C>T (p.Asn274=)
NM_001360.3(DHCR7):c.832-4G>A
NM_001360.3(DHCR7):c.832-4G>T
NM_001360.3(DHCR7):c.832-9G>A
NM_001360.3(DHCR7):c.837C>T (p.Ile279=)
NM_001360.3(DHCR7):c.861C>T (p.Asn287=)
NM_001360.3(DHCR7):c.879G>A (p.Lys293=)
NM_001360.3(DHCR7):c.882C>A (p.Thr294=)
NM_001360.3(DHCR7):c.888C>T (p.Asp296=)
NM_001360.3(DHCR7):c.891C>T (p.Ile297=)
NM_001360.3(DHCR7):c.90C>T (p.Gly30=)
NM_001360.3(DHCR7):c.915C>T (p.Tyr305=)
NM_001360.3(DHCR7):c.957G>T (p.Thr319=)
NM_001360.3(DHCR7):c.958C>T (p.Leu320=)
NM_001360.3(DHCR7):c.963+8G>A
NM_001360.3(DHCR7):c.963+9G>A
NM_001360.3(DHCR7):c.963+9G>T
NM_001360.3(DHCR7):c.964-10C>T
NM_001360.3(DHCR7):c.964-6C>T
NM_001360.3(DHCR7):c.964-8C>T
NM_001360.3(DHCR7):c.964-9G>A
NM_001360.3(DHCR7):c.98+10T>A
NM_001360.3(DHCR7):c.98+9C>T
NM_001360.3(DHCR7):c.987C>G (p.Pro329=)
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=)
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile)
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=)
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.154-5G>A
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.241+9G>A
NM_006270.5(RRAS):c.242-8C>T
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
NM_006270.5(RRAS):c.345-4G>A rs377672475
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.396C>T (p.Arg132=) rs748366671
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
NM_006270.5(RRAS):c.438G>T (p.Leu146=) rs1599813671
NM_006270.5(RRAS):c.453+7G>A
NM_006270.5(RRAS):c.454-9T>A rs1490597941
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.492C>T (p.His164=)
NM_006270.5(RRAS):c.495C>T (p.His165=)
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
NM_006912.6(RIT1):c.106+10A>G rs781557110
NM_006912.6(RIT1):c.107-9C>G rs200597833
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.321T>C (p.Ser107=)
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006912.6(RIT1):c.498A>C (p.Ala166=)
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410
NM_006912.6(RIT1):c.603C>T (p.Asn201=)
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1197-8T>G
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064
NM_006939.4(SOS2):c.1281C>T (p.Ile427=)
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1515T>C (p.Thr505=)
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.1593A>G (p.Glu531=) rs1414010933
NM_006939.4(SOS2):c.1669T>C (p.Leu557=)
NM_006939.4(SOS2):c.1815G>T (p.Val605=)
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)
NM_006939.4(SOS2):c.1853-10G>A
NM_006939.4(SOS2):c.1884A>C (p.Thr628=)
NM_006939.4(SOS2):c.1889G>A (p.Arg630His) rs754778456
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
NM_006939.4(SOS2):c.2058-10A>G
NM_006939.4(SOS2):c.2115C>T (p.Asp705=)
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.213+10A>G
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln) rs534384816
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2220A>C (p.Gln740His)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2271A>G (p.Pro757=)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2586T>C (p.Asp862=) rs1594969928
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=) rs761205651
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
NM_006939.4(SOS2):c.2786-18_2786-17dup
NM_006939.4(SOS2):c.2786-5dup
NM_006939.4(SOS2):c.2786-6T>A rs552609367
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=)
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=)
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
NM_006939.4(SOS2):c.3338-8del
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=)
NM_006939.4(SOS2):c.339G>A (p.Ser113=)
NM_006939.4(SOS2):c.340T>C (p.Leu114=)
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=)
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=)
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=)
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=)
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.453T>C (p.Asn151=)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472
NM_006939.4(SOS2):c.753T>C (p.His251=)
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_006939.4(SOS2):c.894G>A (p.Gln298=)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457

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