ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.*347G>A rs746679629 0.00007
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=) rs776248221 0.00002
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1588C>G (p.Leu530Val) rs1350938422 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1246G>C (p.Asp416His) rs1657867590
NM_017739.4(POMGNT1):c.1591A>C (p.Arg531=) rs1282014120
NM_017739.4(POMGNT1):c.1785+1G>C
NM_017739.4(POMGNT1):c.389del (p.Gly130fs) rs1658215662
NM_017739.4(POMGNT1):c.461C>T (p.Pro154Leu) rs886043030
NM_017739.4(POMGNT1):c.766T>C (p.Trp256Arg) rs2148200613

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.