ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 16 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846

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