ClinVar Miner

List of variants in gene POMT2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_013382.7(POMT2):c.1006+1del rs1064796019
NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs) rs886042094
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1159del (p.Ile387fs)
NM_013382.7(POMT2):c.1312C>T (p.Gln438Ter) rs995812794
NM_013382.7(POMT2):c.1484+1G>T rs727502857
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1726-2A>G rs727503873
NM_013382.7(POMT2):c.1940G>A (p.Trp647Ter) rs2140162237
NM_013382.7(POMT2):c.462G>A (p.Trp154Ter) rs1085307985
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256

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.