ClinVar Miner

List of variants in gene ARFGEF1, CSPP1 studied for Joubert syndrome 21

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Total variants: 8
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HGVS dbSNP
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3205+1G>A rs773954226
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) rs776145236

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