ClinVar Miner

List of variants reported as risk factor for Bardet-Biedl syndrome 1, modifier of

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Total variants: 3
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HGVS dbSNP
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) rs104893679
NM_024296.4(CCDC28B):c.330C>T (p.Phe110=) rs41263993
NM_170784.2(MKKS):c.973A>C (p.Thr325Pro) rs137853156

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