ClinVar Miner

List of variants in gene CSPP1 studied for Joubert syndrome 21

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Total variants: 40
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HGVS dbSNP
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly)
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024790.6(CSPP1):c.113C>T (p.Ala38Val) rs553988238
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.1660C>A (p.His554Asn)
NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) rs199608505
NM_024790.6(CSPP1):c.167_168delAA (p.Lys56Serfs)
NM_024790.6(CSPP1):c.1682+1G>T rs863225193
NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) rs376210928
NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe)
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2146C>G (p.Arg716Gly) rs778822396
NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) rs1402669959
NM_024790.6(CSPP1):c.2244_2245delAA (p.Glu750Glyfs) rs587777139
NM_024790.6(CSPP1):c.2244_2247delAAGA (p.Glu750Lysfs) rs587777145
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) rs771203308
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.2280delA (p.Glu761Lysfs) rs587777140
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2377-8_2377-4delTTTTA rs528357182
NM_024790.6(CSPP1):c.2433_2436delAGAA (p.Lys814Argfs) rs761382780
NM_024790.6(CSPP1):c.2448_2454delAGAAGAA (p.Glu817Lysfs) rs863225191
NM_024790.6(CSPP1):c.2448_2454dupAGAAGAA (p.Glu819Argfs) rs863225191
NM_024790.6(CSPP1):c.2512dup (p.Glu838Glyfs) rs1554604482
NM_024790.6(CSPP1):c.2525delA (p.His842Profs)
NM_024790.6(CSPP1):c.2527_2528delAT (p.Met843Glufs) rs587777143
NM_024790.6(CSPP1):c.2708delA (p.Asn903Metfs) rs863225190
NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) rs537456518
NM_024790.6(CSPP1):c.2814-10_2953+10del rs1554614893
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter)
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846
NM_024790.6(CSPP1):c.363_364del (p.His121Glnfs) rs1554562278
NM_024790.6(CSPP1):c.457delA (p.Arg153Glyfs) rs863225192
NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) rs1554569071
NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) rs587777146
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
NM_024790.6(CSPP1):c.950+1G>C rs863225194

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