ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 17

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Total variants: 13
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HGVS dbSNP
NC_000005.10:g.37239780G>T
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=)
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_023073.3(CPLANE1):c.994_996del (p.Met332del)

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