ClinVar Miner

List of variants reported as likely pathogenic for Beck-Fahrner syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met) rs1573856970
NM_001287491.2(TET3):c.2718C>A (p.Cys906Ter) rs1690249361
NM_001287491.2(TET3):c.3223C>T (p.His1075Tyr)
NM_001287491.2(TET3):c.3272dup (p.Cys1091fs)
NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val) rs2104198321
NM_001287491.2(TET3):c.3878dup (p.Asn1293fs) rs2104214893
NM_001287491.2(TET3):c.4851del (p.Ser1618fs)

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