ClinVar Miner

List of variants in gene BBS2 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.5(BBS2):c.535-2A>G rs1555523398

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