List of variants studied for autosomal recessive disease by NeuroMeGen, Hospital Clinico Santiago de Compostela

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_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	rs143990563	0.00064
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	rs767120669	0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)	rs751549678	0.00001
NM_144508.5(KNL1):c.1521A>G (p.Gln507=)	rs979186313	0.00001
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)	rs1566984441
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)	rs762258343
NM_001267550.2(TTN):c.106531+1G>A	rs760915007
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)	rs397517547
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs)	rs1559267059
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)	rs1057518943
NM_021942.6(TRAPPC11):c.1568-1G>A	rs1180079162
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr)	rs758157294
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)	rs188150039
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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.