List of variants in gene CSPP1 reported as benign for autosomal recessive congenital cerebellar ataxia

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

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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

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