ClinVar Miner

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

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Total variants: 5
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NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) rs10112748
NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) rs201008264
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440

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