ClinVar Miner

List of variants in gene combination ARFGEF1, CSPP1 reported as benign for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_001382391.1(CSPP1):c.3330+17del

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