ClinVar Miner

List of variants in gene CSPP1 reported as benign for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2377-8_2377-4del rs528357182
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846

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