List of variants in gene CSPP1 reported as benign for brain disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001382391.1(CSPP1):c.2392-17C>T	rs58448590	0.13329
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)	rs16933182	0.12797
NM_001382391.1(CSPP1):c.-34C>G	rs117210747	0.02944
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)	rs114177619	0.00835
NM_001382391.1(CSPP1):c.-121A>G	rs181470846	0.00481
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)	rs146431326	0.00429
NM_001382391.1(CSPP1):c.100-13A>G	rs78076942	0.00359
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)	rs73693125	0.00295
NM_001382391.1(CSPP1):c.484-15T>G	rs199671558	0.00290
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)	rs141389465	0.00183
NM_001382391.1(CSPP1):c.1245+15C>T	rs200874913	0.00125
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)	rs201316149	0.00101
NM_001382391.1(CSPP1):c.2539-12T>A	rs185726462	0.00080
NM_001382391.1(CSPP1):c.924-11G>A	rs149756527	0.00080
NM_001382391.1(CSPP1):c.1023-20del	rs550798896	0.00056
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)	rs150924296	0.00021
NM_001382391.1(CSPP1):c.924-9G>A	rs199910808	0.00004
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)	rs199923715	0.00001
NM_001382391.1(CSPP1):c.-10-5del
NM_001382391.1(CSPP1):c.-10-5dup	rs536000854
NM_001382391.1(CSPP1):c.1023-7dup	rs781187284
NM_001382391.1(CSPP1):c.1288-12dup	rs759923250
NM_001382391.1(CSPP1):c.1619-8del
NM_001382391.1(CSPP1):c.200-5del
NM_001382391.1(CSPP1):c.200-5dup	rs775661180
NM_001382391.1(CSPP1):c.2128+25_2128+36del	rs11296619
NM_001382391.1(CSPP1):c.2128+34_2128+36del	rs11296619
NM_001382391.1(CSPP1):c.2128+35_2128+36del	rs11296619
NM_001382391.1(CSPP1):c.2128+36del	rs11296619
NM_001382391.1(CSPP1):c.2392-8_2392-4del	rs528357182
NM_001382391.1(CSPP1):c.2539-4del	rs754861164
NM_001382391.1(CSPP1):c.385-16del
NM_001382391.1(CSPP1):c.385-9dup

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.