ClinVar Miner

List of variants in gene POMT2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NC_000014.9:g.77280705_77280711dup
NC_000014.9:g.77296602_77296604dup
NC_000014.9:g.77302693dup
NM_013382.5(POMT2):c.-124G>A rs147337187
NM_013382.5(POMT2):c.-47_-44del rs368351148
NM_013382.5(POMT2):c.-64G>A rs2270421
NM_013382.5(POMT2):c.1006+212A>G
NM_013382.5(POMT2):c.1006+261C>T
NM_013382.5(POMT2):c.1007-256G>A
NM_013382.5(POMT2):c.1007-282T>C
NM_013382.5(POMT2):c.1007-346G>A
NM_013382.5(POMT2):c.1116+165C>T
NM_013382.5(POMT2):c.1116+243T>G
NM_013382.5(POMT2):c.1117-20C>T rs7153929
NM_013382.5(POMT2):c.1183+14A>G rs80099135
NM_013382.5(POMT2):c.1184-47A>C rs2287387
NM_013382.5(POMT2):c.1383A>G (p.Arg461=) rs2270419
NM_013382.5(POMT2):c.1484+136T>C
NM_013382.5(POMT2):c.1484+95A>G
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1576+55C>T
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1653+266C>T
NM_013382.5(POMT2):c.1653+83A>C
NM_013382.5(POMT2):c.1654-217A>G
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1786-39C>T rs438931
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.1891+54A>G
NM_013382.5(POMT2):c.1892-164C>T
NM_013382.5(POMT2):c.1911G>T (p.Leu637=) rs3209079
NM_013382.5(POMT2):c.2148-18A>G rs138488805
NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.248+108C>A
NM_013382.5(POMT2):c.249-109A>G
NM_013382.5(POMT2):c.334-45T>C rs66502123
NM_013382.5(POMT2):c.438+81C>T
NM_013382.5(POMT2):c.547+201T>C
NM_013382.5(POMT2):c.816+51T>C
NM_013382.5(POMT2):c.817-121C>T
NM_013382.5(POMT2):c.817-123T>C

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.