ClinVar Miner

List of variants studied for Joubert syndrome 25 by Invitae

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Total variants: 11
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NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn)
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser) rs185664269
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg) rs201733773
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp) rs142899837
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855
NM_014704.4(CEP104):c.781G>A (p.Val261Met) rs768279838

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