ClinVar Miner

List of variants studied for Beck-Fahrner syndrome

Included ClinVar conditions (1):
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001287491.2(TET3):c.2536T>C (p.Leu846=) rs7560668 0.39767
NM_001287491.2(TET3):c.360+47G>A rs185515634 0.00469
NM_001287491.2(TET3):c.2805C>T (p.Leu935=) rs115293949 0.00329
NM_001287491.2(TET3):c.2135G>A (p.Arg712Gln) rs57955681 0.00188
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_001287491.2(TET3):c.1723C>A (p.Pro575Thr) rs749720406 0.00004
NM_001287491.2(TET3):c.881T>C (p.Val294Ala) rs927433947 0.00004
NM_001287491.2(TET3):c.3584C>T (p.Ala1195Val) rs756361815 0.00003
NM_001287491.2(TET3):c.791G>A (p.Arg264Gln) rs755654877 0.00002
NM_001287491.2(TET3):c.3040-8C>T rs912764133 0.00001
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 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.1189C>G (p.Pro397Ala) rs375606763
NM_001287491.2(TET3):c.1215del (p.Trp406fs) rs1573779765
NM_001287491.2(TET3):c.1294G>C (p.Glu432Gln)
NM_001287491.2(TET3):c.1496C>T (p.Pro499Leu) rs200362611
NM_001287491.2(TET3):c.1743G>T (p.Lys581Asn)
NM_001287491.2(TET3):c.2033C>T (p.Pro678Leu) rs2103696490
NM_001287491.2(TET3):c.2161_2183dup (p.Ser729fs) rs2103698244
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)
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.2989C>G (p.Arg997Gly)
NM_001287491.2(TET3):c.3000_3013del (p.Lys1003fs)
NM_001287491.2(TET3):c.3161G>A (p.Arg1054His)
NM_001287491.2(TET3):c.3203C>G (p.Ala1068Gly)
NM_001287491.2(TET3):c.3215T>G (p.Phe1072Cys) rs1573906351
NM_001287491.2(TET3):c.3223C>T (p.His1075Tyr)
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)
NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val) rs2104198321
NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro) rs762454349
NM_001287491.2(TET3):c.3604+7G>T rs776625317
NM_001287491.2(TET3):c.361-17dup rs11426743
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)
NM_001287491.2(TET3):c.4083C>A (p.Tyr1361Ter)
NM_001287491.2(TET3):c.4184C>T (p.Ser1395Phe) rs762846019
NM_001287491.2(TET3):c.4334C>A (p.Ser1445Tyr) rs757541427
NM_001287491.2(TET3):c.4427G>A (p.Gly1476Glu)
NM_001287491.2(TET3):c.4594G>C (p.Glu1532Gln) rs1572906291
NM_001287491.2(TET3):c.4851del (p.Ser1618fs)
NM_001287491.2(TET3):c.4977_4983del (p.His1660fs) rs1572907400
NM_001287491.2(TET3):c.5047C>T (p.Arg1683Cys)
NM_001287491.2(TET3):c.5062C>T (p.Arg1688Cys)
NM_001287491.2(TET3):c.5083C>T (p.Gln1695Ter) rs1572907595
NM_001287491.2(TET3):c.5186G>A (p.Arg1729Gln)
NM_001287491.2(TET3):c.5231G>A (p.Arg1744His)
NM_001287491.2(TET3):c.5320G>T (p.Asp1774Tyr)
NM_001287491.2(TET3):c.677G>A (p.Arg226His)
NM_001287491.2(TET3):c.67C>T (p.Arg23Cys)
NM_001287491.2(TET3):c.949G>A (p.Ala317Thr) rs2103680161

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