ClinVar Miner

List of variants studied for Beck-Fahrner syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
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.3000_3013del (p.Lys1003fs)
NM_001287491.2(TET3):c.4334C>A (p.Ser1445Tyr) rs757541427
NM_001287491.2(TET3):c.5047C>T (p.Arg1683Cys)

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