ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 14

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Total variants: 5
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_025114.3(CEP290):c.1419_1423del (p.Ile474Argfs) rs771266705
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541

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