ClinVar Miner

List of variants studied for Beck-Fahrner syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001287491.2(TET3):c.2536T>C (p.Leu846=) rs7560668 0.38484
NM_001287491.2(TET3):c.360+47G>A rs185515634 0.00460
NM_001287491.2(TET3):c.2805C>T (p.Leu935=) rs115293949 0.00318
NM_001287491.2(TET3):c.2135G>A (p.Arg712Gln) rs57955681 0.00188
NM_001287491.2(TET3):c.79G>A (p.Val27Ile) rs142623499 0.00047
NM_001287491.2(TET3):c.3883G>A (p.Val1295Ile) rs199849765 0.00040
NM_001287491.2(TET3):c.4276T>C (p.Ser1426Pro) rs376602456 0.00013
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_001287491.2(TET3):c.1502C>T (p.Pro501Leu) rs370058010 0.00006
NM_001287491.2(TET3):c.881T>C (p.Val294Ala) rs927433947 0.00004
NM_001287491.2(TET3):c.1294G>C (p.Glu432Gln) rs751522796 0.00003
NM_001287491.2(TET3):c.1723C>A (p.Pro575Thr) rs749720406 0.00003
NM_001287491.2(TET3):c.3584C>T (p.Ala1195Val) rs756361815 0.00003
NM_001287491.2(TET3):c.5186G>A (p.Arg1729Gln) rs754411426 0.00003
NM_001287491.2(TET3):c.1874G>A (p.Arg625Gln) rs986661716 0.00002
NM_001287491.2(TET3):c.67C>T (p.Arg23Cys) rs1684031108 0.00002
NM_001287491.2(TET3):c.791G>A (p.Arg264Gln) rs755654877 0.00002
NM_001287491.2(TET3):c.3019G>A (p.Ala1007Thr) rs754843346 0.00001
NM_001287491.2(TET3):c.3040-8C>T rs912764133 0.00001
NM_001287491.2(TET3):c.4427G>A (p.Gly1476Glu) rs558778723 0.00001
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001287491.2(TET3):c.5320G>T (p.Asp1774Tyr) rs745931163 0.00001
NM_001287491.2(TET3):c.677G>A (p.Arg226His) rs899042055 0.00001
NM_001287491.2(TET3):c.737G>A (p.Cys246Tyr) rs759918574 0.00001
NM_001287491.2(TET3):c.-425+1G>T rs2105049195
NM_001287491.2(TET3):c.1139C>T (p.Ala380Val) rs1687667022
NM_001287491.2(TET3):c.1189C>G (p.Pro397Ala) rs375606763
NM_001287491.2(TET3):c.1215del (p.Trp406fs) rs1573779765
NM_001287491.2(TET3):c.1310G>A (p.Trp437Ter) rs2467434544
NM_001287491.2(TET3):c.1349G>A (p.Trp450Ter)
NM_001287491.2(TET3):c.1436A>G (p.Lys479Arg)
NM_001287491.2(TET3):c.1496C>T (p.Pro499Leu) rs200362611
NM_001287491.2(TET3):c.1497GGCCCC[1] (p.500AP[1])
NM_001287491.2(TET3):c.1743G>T (p.Lys581Asn) rs2467439751
NM_001287491.2(TET3):c.1925C>G (p.Ala642Gly)
NM_001287491.2(TET3):c.1958G>T (p.Gly653Val)
NM_001287491.2(TET3):c.1993del (p.Ala665fs) rs2467441966
NM_001287491.2(TET3):c.2033C>T (p.Pro678Leu) rs2103696490
NM_001287491.2(TET3):c.2059_2062dup (p.Pro688fs) rs2467442575
NM_001287491.2(TET3):c.2134C>T (p.Arg712Trp)
NM_001287491.2(TET3):c.2161_2183dup (p.Ser729fs) rs2103698244
NM_001287491.2(TET3):c.244C>T (p.Gln82Ter)
NM_001287491.2(TET3):c.2500A>G (p.Ile834Val) rs903365864
NM_001287491.2(TET3):c.2522C>T (p.Pro841Leu)
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) rs1573856970
NM_001287491.2(TET3):c.2617G>A (p.Glu873Lys) rs2103992882
NM_001287491.2(TET3):c.2684del (p.Ile895fs) rs2467623019
NM_001287491.2(TET3):c.2718C>A (p.Cys906Ter) rs1690249361
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu) rs1227643933
NM_001287491.2(TET3):c.2737_2738del (p.Gly913fs)
NM_001287491.2(TET3):c.2764G>A (p.Val922Ile)
NM_001287491.2(TET3):c.2903G>C (p.Cys968Ser)
NM_001287491.2(TET3):c.2989C>G (p.Arg997Gly) rs2467635198
NM_001287491.2(TET3):c.3000_3013del (p.Lys1003fs) rs2467635315
NM_001287491.2(TET3):c.3161G>A (p.Arg1054His) rs2467656544
NM_001287491.2(TET3):c.3167G>A (p.Gly1056Glu)
NM_001287491.2(TET3):c.3203C>G (p.Ala1068Gly) rs2467656913
NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys) rs1573906351
NM_001287491.2(TET3):c.3223C>T (p.His1075Tyr) rs2467657005
NM_001287491.2(TET3):c.3226G>A (p.Ala1076Thr) rs1573906389
NM_001287491.2(TET3):c.3265G>A (p.Val1089Met) rs1174857008
NM_001287491.2(TET3):c.3272dup (p.Cys1091fs) rs2467684945
NM_001287491.2(TET3):c.3301G>C (p.Val1101Leu) rs748561400
NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val) rs2104198321
NM_001287491.2(TET3):c.3448C>T (p.Arg1150Ter) rs2467686025
NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro) rs762454349
NM_001287491.2(TET3):c.3547A>G (p.Thr1183Ala) rs1400887395
NM_001287491.2(TET3):c.3589A>T (p.Ile1197Phe) rs1490800882
NM_001287491.2(TET3):c.3604+7G>T rs776625317
NM_001287491.2(TET3):c.361-17dup rs11426743
NM_001287491.2(TET3):c.3740G>A (p.Arg1247Gln)
NM_001287491.2(TET3):c.3814G>A (p.Val1272Ile)
NM_001287491.2(TET3):c.3878dup (p.Asn1293fs) rs2104214893
NM_001287491.2(TET3):c.3966C>G (p.His1322Gln) rs768193705
NM_001287491.2(TET3):c.3980_3981insACTGAG (p.Asn1326_Ser1327insArgLeu) rs768310475
NM_001287491.2(TET3):c.4042G>A (p.Asp1348Asn)
NM_001287491.2(TET3):c.4083C>A (p.Tyr1361Ter) rs1382825388
NM_001287491.2(TET3):c.4184C>T (p.Ser1395Phe) rs762846019
NM_001287491.2(TET3):c.4209_4216dup (p.Gln1406delinsArgTer)
NM_001287491.2(TET3):c.4334C>A (p.Ser1445Tyr) rs757541427
NM_001287491.2(TET3):c.4594G>C (p.Glu1532Gln) rs1572906291
NM_001287491.2(TET3):c.4846C>T (p.Pro1616Ser) rs764975149
NM_001287491.2(TET3):c.4851del (p.Ser1618fs) rs2528198828
NM_001287491.2(TET3):c.4977_4983del (p.His1660fs) rs1572907400
NM_001287491.2(TET3):c.5047C>T (p.Arg1683Cys) rs2528201521
NM_001287491.2(TET3):c.5062C>T (p.Arg1688Cys) rs2104233612
NM_001287491.2(TET3):c.5075TCT[1] (p.Phe1693del)
NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter) rs1572907595
NM_001287491.2(TET3):c.5231G>A (p.Arg1744His) rs375875056
NM_001287491.2(TET3):c.5243dup (p.Thr1749fs) rs759623160
NM_001287491.2(TET3):c.5318C>G (p.Thr1773Arg) rs2528204375
NM_001287491.2(TET3):c.702C>G (p.Asn234Lys)
NM_001287491.2(TET3):c.70C>T (p.Gln24Ter)
NM_001287491.2(TET3):c.738C>A (p.Cys246Ter)
NM_001287491.2(TET3):c.949G>A (p.Ala317Thr) rs2103680161

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.