List of variants in gene SYNE2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 48

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)	rs200848069	0.00041
NM_182914.3(SYNE2):c.19194C>T (p.Ala6398=)	rs144599409	0.00021
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn)	rs760936547	0.00007
NM_182914.3(SYNE2):c.19316A>C (p.Tyr6439Ser)	rs753261176	0.00006
NM_182914.3(SYNE2):c.10454T>C (p.Leu3485Ser)	rs533363453	0.00003
NM_182914.3(SYNE2):c.2744T>C (p.Leu915Ser)	rs376041943	0.00002
NM_182914.3(SYNE2):c.9692G>A (p.Arg3231His)	rs773533722	0.00002
NM_182914.3(SYNE2):c.12609+1G>A	rs745516407	0.00001
NM_182914.3(SYNE2):c.13180G>C (p.Glu4394Gln)	rs757620618	0.00001
NM_182914.3(SYNE2):c.17808G>A (p.Met5936Ile)	rs1170371071	0.00001
NM_182914.3(SYNE2):c.19025G>A (p.Arg6342Gln)	rs987547244	0.00001
NM_182914.3(SYNE2):c.1069G>C (p.Asp357His)	rs1566933004
NM_182914.3(SYNE2):c.11314A>G (p.Arg3772Gly)
NM_182914.3(SYNE2):c.11443G>T (p.Asp3815Tyr)	rs1595386033
NM_182914.3(SYNE2):c.11793+1G>C	rs1187931508
NM_182914.3(SYNE2):c.12320G>C (p.Gly4107Ala)
NM_182914.3(SYNE2):c.13072C>T (p.Leu4358Phe)
NM_182914.3(SYNE2):c.14452_14453del (p.Glu4818fs)
NM_182914.3(SYNE2):c.14646+7G>A	rs1595748236
NM_182914.3(SYNE2):c.14719G>T (p.Ala4907Ser)
NM_182914.3(SYNE2):c.15421G>C (p.Ala5141Pro)	rs2153694703
NM_182914.3(SYNE2):c.15718G>A (p.Ala5240Thr)
NM_182914.3(SYNE2):c.15805A>G (p.Lys5269Glu)
NM_182914.3(SYNE2):c.16065C>T (p.Ile5355=)	rs36002764
NM_182914.3(SYNE2):c.16528A>C (p.Lys5510Gln)
NM_182914.3(SYNE2):c.16664G>T (p.Ser5555Ile)	rs1057519125
NM_182914.3(SYNE2):c.166G>A (p.Asp56Asn)
NM_182914.3(SYNE2):c.16924T>G (p.Ser5642Ala)	rs145661639
NM_182914.3(SYNE2):c.17546A>G (p.Glu5849Gly)
NM_182914.3(SYNE2):c.17773A>G (p.Lys5925Glu)
NM_182914.3(SYNE2):c.18380G>A (p.Arg6127Gln)
NM_182914.3(SYNE2):c.18623G>A (p.Arg6208His)
NM_182914.3(SYNE2):c.1923T>G (p.Asp641Glu)
NM_182914.3(SYNE2):c.19276G>C (p.Gly6426Arg)
NM_182914.3(SYNE2):c.20177G>C (p.Arg6726Pro)
NM_182914.3(SYNE2):c.2031dup (p.Gln678fs)	rs750736888
NM_182914.3(SYNE2):c.20338C>G (p.Arg6780Gly)	rs138437515
NM_182914.3(SYNE2):c.20636A>T (p.Glu6879Val)	rs757149542
NM_182914.3(SYNE2):c.20674C>T (p.Arg6892Trp)	rs534020975
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
NM_182914.3(SYNE2):c.4873G>A (p.Asp1625Asn)
NM_182914.3(SYNE2):c.5011_5013dup (p.Leu1671dup)	rs1594893504
NM_182914.3(SYNE2):c.6551T>C (p.Ile2184Thr)
NM_182914.3(SYNE2):c.6609dup (p.Ser2204fs)
NM_182914.3(SYNE2):c.678C>G (p.Asp226Glu)
NM_182914.3(SYNE2):c.7258_7263del (p.Ser2420_Leu2421del)	rs1555450521
NM_182914.3(SYNE2):c.7502T>C (p.Leu2501Ser)
NM_182914.3(SYNE2):c.991-4G>T	rs1595926377

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.