ClinVar Miner

List of variants studied for Joubert syndrome 16

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NM_016464.5(TMEM138):c.128+5G>A
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile) rs763118625
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys) rs1565076874
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser) rs775913576

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