List of variants studied for cerebellar disorder by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His)	rs769417045	0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_001080522.2(CC2D2A):c.3289delG	rs386833751
NM_001378452.1(ITPR1):c.7766T>C (p.Val2589Ala)	rs2049205080
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)	rs770730338
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_014363.6(SACS):c.2829dup (p.Leu944fs)	rs1869162207
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	rs770901638
NM_014363.6(SACS):c.5492del (p.Lys1831fs)	rs1868862742
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)	rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)	rs1064794555
NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile)	rs2098746138
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)	rs2083582255

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.