List of variants studied for cerebellar disorder by Johns Hopkins Genomics, Johns Hopkins University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)	rs147903234	0.00041
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys)	rs779077930	0.00006
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	rs119467003	0.00002
NM_152703.5(SAMD9L):c.3893G>A (p.Arg1298His)	rs1010548594	0.00002
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)	rs1566903524	0.00001
NM_001447.3(FAT2):c.11978C>T (p.Ala3993Val)	rs748005307	0.00001
NM_152703.5(SAMD9L):c.748G>T (p.Val250Phe)	rs1451330701	0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)	rs775815795	0.00001
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	rs766524637
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)	rs1719933188
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)	rs747109506
NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser)	rs1554341158
NM_152703.5(SAMD9L):c.3965T>A (p.Leu1322Ter)	rs1584271706
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)	rs145899734

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.