ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 16 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.-47T>A rs3904682 0.41725
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_006642.5(SDCCAG8):c.1473+48dup rs398050192 0.26150
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529 0.02103

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