ClinVar Miner

List of variants in gene CSPP1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) rs201609022 0.00214
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) rs370003497 0.00040
NM_001382391.1(CSPP1):c.-150A>C rs370569030
NM_001382391.1(CSPP1):c.1022+5A>C rs797045503
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2829-9_2968+11del rs1554614893
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802

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