ClinVar Miner

List of variants reported as benign for Joubert syndrome 25 by Invitae

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Total variants: 9
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HGVS dbSNP
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709

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