ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746

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