ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001278293.3(ARL6):c.-240C>T rs116162146
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_152618.3(BBS12):c.*187dup rs386401352

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