ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 18 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_001195305.3(BBIP1):c.110A>G (p.Gln37Arg) rs1183826527 0.00001

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