ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 21 by Invitae

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Total variants: 14
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NM_001291339.1(CSPP1):c.1325_1326GA[2] (p.Lys444fs)
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
NM_024790.6(CSPP1):c.1534C>T (p.Arg512Ter)
NM_024790.6(CSPP1):c.167_168del (p.Lys56fs) rs766020802
NM_024790.6(CSPP1):c.2089G>T (p.Glu697Ter)
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2512dup (p.Glu838fs) rs1554604482
NM_024790.6(CSPP1):c.2525del (p.His842fs) rs1563720581
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) rs1380418532

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