ClinVar Miner

List of variants reported as uncertain significance for Beck-Fahrner syndrome

Included ClinVar conditions (1):
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Total variants: 33
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HGVS dbSNP gnomAD frequency
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.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.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.2617G>A (p.Glu873Lys) rs2103992882
NM_001287491.2(TET3):c.2989C>G (p.Arg997Gly)
NM_001287491.2(TET3):c.3161G>A (p.Arg1054His)
NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro) rs762454349
NM_001287491.2(TET3):c.3604+7G>T rs776625317
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.5047C>T (p.Arg1683Cys)
NM_001287491.2(TET3):c.5062C>T (p.Arg1688Cys)
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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