ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 8 by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158 0.00319
NM_144596.4(TTC8):c.-25G>A rs7145692 0.00290
NM_144596.4(TTC8):c.*93G>A rs116740320 0.00263
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_144596.4(TTC8):c.*83A>G rs147325843 0.00059
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418

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