ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.1785+31C>A rs78405727 0.05247
NM_017739.4(POMGNT1):c.355-27C>T rs76693406 0.04225
NM_017739.4(POMGNT1):c.880-39G>C rs115804669 0.02824
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_017739.4(POMGNT1):c.1785+46C>T rs112610756 0.01013
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.534+40C>A rs138588408 0.00109
NM_017739.4(POMGNT1):c.534+15C>T rs141676863 0.00038
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_017739.4(POMGNT1):c.421-13_421-10dup rs772136218 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_017739.4(POMGNT1):c.1284+8G>A rs761259999 0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=) rs576860809 0.00003
NM_017739.4(POMGNT1):c.1005T>A (p.Val335=) rs749046557 0.00001
NM_017739.4(POMGNT1):c.1212-4T>G rs778941358 0.00001
NM_017739.4(POMGNT1):c.1560C>T (p.His520=) rs1057521878 0.00001
NM_017739.4(POMGNT1):c.1786-17C>T rs1209878503 0.00001
NM_017739.4(POMGNT1):c.504G>A (p.Ala168=) rs761978964 0.00001
NM_017739.4(POMGNT1):c.535-14C>G rs778926136 0.00001
NM_017739.4(POMGNT1):c.861C>T (p.Ile287=) rs764747122 0.00001
NM_017739.4(POMGNT1):c.1173T>C (p.Val391=) rs142739678
NM_017739.4(POMGNT1):c.1569C>T (p.Asn523=) rs1057523859
NM_017739.4(POMGNT1):c.535-7C>T rs375913574
NM_017739.4(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
NM_017739.4(POMGNT1):c.652+19A>G rs1475010799

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.