ClinVar Miner

List of variants in gene combination ARFGEF1, CSPP1 reported as benign for Joubert syndrome 21

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440

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