ClinVar Miner

List of variants reported as likely benign for Bardet-Biedl syndrome 1 by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.805-20A>G	rs41280892	0.00423
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)	rs61764067	0.00375
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)	rs139658279	0.00072

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