ClinVar Miner

List of variants reported as uncertain significance for Oculofaciocardiodental syndrome

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001123385.2(BCOR):c.1264A>G (p.Ser422Gly) rs202240562 0.00010
NM_001123385.2(BCOR):c.4766G>A (p.Arg1589His) rs367859441 0.00009
NM_001123385.2(BCOR):c.2690C>T (p.Ser897Leu) rs147251146 0.00007
NM_001123385.2(BCOR):c.3872C>T (p.Pro1291Leu) rs371205644 0.00007
NM_001123385.2(BCOR):c.4014A>C (p.Glu1338Asp) rs142866108 0.00006
NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) rs764515953 0.00005
NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093 0.00005
NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) rs770784599 0.00005
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn) rs886042813 0.00005
NM_001123385.2(BCOR):c.438T>A (p.Ser146Arg) rs902578908 0.00005
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser) rs148886271 0.00004
NM_001123385.2(BCOR):c.4202C>T (p.Pro1401Leu) rs201959477 0.00004
NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) rs777945715 0.00004
NM_001123385.2(BCOR):c.1381A>G (p.Met461Val) rs746591131 0.00003
NM_001123385.2(BCOR):c.2014T>G (p.Ser672Ala) rs372910732 0.00003
NM_001123385.2(BCOR):c.3266G>A (p.Arg1089His) rs772117755 0.00003
NM_001123385.2(BCOR):c.3691C>T (p.Arg1231Trp) rs147934033 0.00003
NM_001123385.2(BCOR):c.4679C>T (p.Thr1560Met) rs762705967 0.00003
NM_001123385.2(BCOR):c.874G>T (p.Gly292Cys) rs774040250 0.00003
NM_001123385.2(BCOR):c.947C>A (p.Pro316His) rs747499705 0.00003
NM_001123385.2(BCOR):c.1016C>T (p.Pro339Leu) rs587778095 0.00002
NM_001123385.2(BCOR):c.1064C>T (p.Ser355Leu) rs747038834 0.00002
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) rs1313448533 0.00002
NM_001123385.2(BCOR):c.1153G>A (p.Ala385Thr) rs1373208021 0.00002
NM_001123385.2(BCOR):c.1601G>C (p.Trp534Ser) rs1407822292 0.00002
NM_001123385.2(BCOR):c.221G>A (p.Arg74His) rs1434826738 0.00002
NM_001123385.2(BCOR):c.2789C>G (p.Pro930Arg) rs753661121 0.00002
NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) rs1226506629 0.00002
NM_001123385.2(BCOR):c.3692G>A (p.Arg1231Gln) rs773204535 0.00002
NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) rs1033092772 0.00002
NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) rs933611569 0.00002
NM_001123385.2(BCOR):c.5234A>C (p.His1745Pro) rs587778100 0.00002
NM_001123385.2(BCOR):c.651G>A (p.Met217Ile) rs368939471 0.00002
NM_001123385.2(BCOR):c.863C>T (p.Pro288Leu) rs200417267 0.00002
NM_001123385.2(BCOR):c.1523C>T (p.Ser508Phe) rs773646449 0.00001
NM_001123385.2(BCOR):c.1910C>G (p.Ser637Cys) rs148052848 0.00001
NM_001123385.2(BCOR):c.1981C>G (p.Pro661Ala) rs749370134 0.00001
NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) rs1041380012 0.00001
NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) rs768557634 0.00001
NM_001123385.2(BCOR):c.235C>T (p.Arg79Trp) rs1462787258 0.00001
NM_001123385.2(BCOR):c.2519C>T (p.Pro840Leu) rs904253464 0.00001
NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) rs781016038 0.00001
NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) rs527732438 0.00001
NM_001123385.2(BCOR):c.3092G>A (p.Arg1031Lys) rs755537147 0.00001
NM_001123385.2(BCOR):c.3291C>A (p.Asp1097Glu) rs1935101181 0.00001
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) rs1474217458 0.00001
NM_001123385.2(BCOR):c.3987G>C (p.Lys1329Asn) rs752258567 0.00001
NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) rs1459702445 0.00001
NM_001123385.2(BCOR):c.4858C>G (p.Pro1620Ala) rs759345634 0.00001
NM_001123385.2(BCOR):c.4903G>A (p.Asp1635Asn) rs367883774 0.00001
NM_001123385.2(BCOR):c.578A>G (p.Asn193Ser) rs1259098035 0.00001
NM_001123385.2(BCOR):c.779C>G (p.Ser260Cys) rs1469848579 0.00001
NC_000023.10:g.(?_39911356)_(40465012_?)dup
NM_001123385.2(BCOR):c.1024C>G (p.Arg342Gly)
NM_001123385.2(BCOR):c.1034T>A (p.Leu345His)
NM_001123385.2(BCOR):c.112G>A (p.Ala38Thr)
NM_001123385.2(BCOR):c.1231C>T (p.Arg411Trp)
NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) rs754579483
NM_001123385.2(BCOR):c.1260T>A (p.Asp420Glu)
NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser)
NM_001123385.2(BCOR):c.1306G>A (p.Val436Ile)
NM_001123385.2(BCOR):c.1411G>C (p.Ala471Pro) rs2147243708
NM_001123385.2(BCOR):c.1557G>C (p.Glu519Asp)
NM_001123385.2(BCOR):c.1575G>A (p.Met525Ile) rs1602152534
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys) rs1935607481
NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) rs1602151728
NM_001123385.2(BCOR):c.176G>A (p.Ser59Asn) rs1197348343
NM_001123385.2(BCOR):c.184C>T (p.His62Tyr)
NM_001123385.2(BCOR):c.1862A>G (p.Asn621Ser)
NM_001123385.2(BCOR):c.1901C>A (p.Pro634Gln)
NM_001123385.2(BCOR):c.1908C>G (p.Ser636Arg)
NM_001123385.2(BCOR):c.1912A>G (p.Ile638Val)
NM_001123385.2(BCOR):c.1987C>A (p.Pro663Thr)
NM_001123385.2(BCOR):c.206C>T (p.Ala69Val)
NM_001123385.2(BCOR):c.2172G>T (p.Met724Ile)
NM_001123385.2(BCOR):c.2351A>T (p.Asn784Ile)
NM_001123385.2(BCOR):c.2396A>G (p.Lys799Arg)
NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) rs1555918075
NM_001123385.2(BCOR):c.2421C>A (p.Asp807Glu)
NM_001123385.2(BCOR):c.2461G>A (p.Val821Met)
NM_001123385.2(BCOR):c.2500A>G (p.Ser834Gly)
NM_001123385.2(BCOR):c.2506G>A (p.Glu836Lys)
NM_001123385.2(BCOR):c.2600A>G (p.Glu867Gly) rs2147207207
NM_001123385.2(BCOR):c.2655_2660del (p.Gly886_Thr887del) rs2147205508
NM_001123385.2(BCOR):c.2664C>A (p.Asn888Lys) rs1935534815
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) rs542522950
NM_001123385.2(BCOR):c.2815T>C (p.Tyr939His) rs2147202440
NM_001123385.2(BCOR):c.2917G>A (p.Val973Met)
NM_001123385.2(BCOR):c.3053G>C (p.Arg1018Pro)
NM_001123385.2(BCOR):c.3119A>T (p.Asp1040Val)
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)
NM_001123385.2(BCOR):c.3340G>A (p.Glu1114Lys)
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln) rs757991049
NM_001123385.2(BCOR):c.3346C>T (p.Pro1116Ser)
NM_001123385.2(BCOR):c.3386C>T (p.Thr1129Ile)
NM_001123385.2(BCOR):c.3392G>A (p.Arg1131Gln) rs758883383
NM_001123385.2(BCOR):c.3407G>A (p.Arg1136His)
NM_001123385.2(BCOR):c.3467C>G (p.Pro1156Arg) rs1935083156
NM_001123385.2(BCOR):c.3648_3656del (p.Arg1217_Glu1219del)
NM_001123385.2(BCOR):c.3758C>T (p.Thr1253Ile)
NM_001123385.2(BCOR):c.3784G>T (p.Ala1262Ser)
NM_001123385.2(BCOR):c.37A>G (p.Ser13Gly) rs1935888587
NM_001123385.2(BCOR):c.3829C>G (p.Pro1277Ala)
NM_001123385.2(BCOR):c.383C>T (p.Thr128Ile)
NM_001123385.2(BCOR):c.3871C>T (p.Pro1291Ser) rs1934982126
NM_001123385.2(BCOR):c.3897C>A (p.Thr1299=)
NM_001123385.2(BCOR):c.3917A>T (p.Gln1306Leu)
NM_001123385.2(BCOR):c.3948G>C (p.Arg1316Ser)
NM_001123385.2(BCOR):c.4009G>A (p.Glu1337Lys)
NM_001123385.2(BCOR):c.404C>G (p.Ser135Cys)
NM_001123385.2(BCOR):c.4076G>T (p.Gly1359Val) rs2147031295
NM_001123385.2(BCOR):c.4123C>T (p.Arg1375Trp)
NM_001123385.2(BCOR):c.4165G>A (p.Asp1389Asn)
NM_001123385.2(BCOR):c.4240C>G (p.Gln1414Glu) rs1602122136
NM_001123385.2(BCOR):c.4262G>A (p.Arg1421His)
NM_001123385.2(BCOR):c.4327A>G (p.Thr1443Ala)
NM_001123385.2(BCOR):c.442A>G (p.Ile148Val)
NM_001123385.2(BCOR):c.4550T>C (p.Leu1517Pro) rs765759611
NM_001123385.2(BCOR):c.4760A>G (p.Gln1587Arg)
NM_001123385.2(BCOR):c.4770TGA[2] (p.Asp1593del) rs2146871024
NM_001123385.2(BCOR):c.493G>C (p.Ala165Pro)
NM_001123385.2(BCOR):c.4943C>T (p.Pro1648Leu)
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001123385.2(BCOR):c.5000C>T (p.Ser1667Leu)
NM_001123385.2(BCOR):c.5003_5005del (p.Asp1668del) rs2146829974
NM_001123385.2(BCOR):c.5029T>C (p.Ser1677Pro)
NM_001123385.2(BCOR):c.5144C>T (p.Ala1715Val)
NM_001123385.2(BCOR):c.5157A>T (p.Glu1719Asp) rs2146825751
NM_001123385.2(BCOR):c.51C>G (p.Ser17Arg) rs771428828
NM_001123385.2(BCOR):c.563G>A (p.Arg188Gln)
NM_001123385.2(BCOR):c.59T>C (p.Val20Ala)
NM_001123385.2(BCOR):c.724G>A (p.Glu242Lys) rs1935694930
NM_001123385.2(BCOR):c.733C>A (p.Leu245Ile) rs1935693973
NM_001123385.2(BCOR):c.761G>A (p.Gly254Asp) rs2147263152
NM_001123385.2(BCOR):c.790C>T (p.Pro264Ser) rs1935688006
NM_001123385.2(BCOR):c.793A>G (p.Met265Val)
NM_001123385.2(BCOR):c.799C>G (p.Leu267Val)
NM_001123385.2(BCOR):c.937C>A (p.Pro313Thr) rs1935673901
NM_001123385.2(BCOR):c.938C>T (p.Pro313Leu) rs1935673518
NM_001123385.2(BCOR):c.977C>T (p.Pro326Leu)
NM_001123385.2(BCOR):c.986C>G (p.Thr329Arg)
NM_001123385.2(BCOR):c.989C>T (p.Ala330Val)
NM_017745.5(BCOR):c.-292-?_*863+?dup

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