ClinVar Miner

List of variants reported as likely benign for reticular dysgenesis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.460G>A (p.Glu154Lys) rs148421308 0.00208
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_001625.4(AK2):c.624C>T (p.Ser208=) rs779366586 0.00045
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595 0.00034
NM_001625.4(AK2):c.611G>A (p.Arg204Gln) rs200179721 0.00026
NM_001625.4(AK2):c.648C>T (p.Pro216=) rs201622956 0.00015
NM_001625.4(AK2):c.333C>T (p.Leu111=) rs200433299 0.00014
NM_001625.4(AK2):c.117C>T (p.Phe39=) rs764509277 0.00011
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964 0.00008
NM_001625.4(AK2):c.171C>A (p.Gly57=) rs61755973 0.00007
NM_001625.4(AK2):c.660C>T (p.Phe220=) rs566166581 0.00006
NM_001625.4(AK2):c.615G>C (p.Gly205=) rs769651837 0.00005
NM_001625.4(AK2):c.25G>A (p.Glu9Lys) rs267606647 0.00003
NM_001625.4(AK2):c.438C>T (p.Pro146=) rs987764285 0.00003
NM_001625.4(AK2):c.499-8G>T rs752613147 0.00003
NM_001625.4(AK2):c.93+17G>A rs779763748 0.00003
NM_001625.4(AK2):c.331-11T>C rs184410375 0.00002
NM_001625.4(AK2):c.498C>T (p.Asp166=) rs747101216 0.00002
NM_001625.4(AK2):c.57G>A (p.Val19=) rs371268140 0.00002
NM_001625.4(AK2):c.162G>A (p.Val54=) rs1227843304 0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916 0.00001
NM_001625.4(AK2):c.220-7C>T rs1195194137 0.00001
NM_001625.4(AK2):c.499-13T>C rs749143789 0.00001
NM_001625.4(AK2):c.499-5C>T rs1421627521 0.00001
NM_001625.4(AK2):c.129T>C (p.His43=)
NM_001625.4(AK2):c.132A>G (p.Leu44=)
NM_001625.4(AK2):c.141G>T (p.Gly47=)
NM_001625.4(AK2):c.165T>C (p.Ala55=)
NM_001625.4(AK2):c.216A>G (p.Lys72=) rs2124345022
NM_001625.4(AK2):c.219+16C>T
NM_001625.4(AK2):c.219+20T>A rs377400886
NM_001625.4(AK2):c.219+20T>C
NM_001625.4(AK2):c.220-12C>T
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.330+18T>C
NM_001625.4(AK2):c.331-12A>G rs2124328960
NM_001625.4(AK2):c.331-15C>T
NM_001625.4(AK2):c.343A>T (p.Met115Leu) rs552302095
NM_001625.4(AK2):c.425+14G>C
NM_001625.4(AK2):c.426-17_426-14del
NM_001625.4(AK2):c.426-19T>C
NM_001625.4(AK2):c.429G>C (p.Leu143=)
NM_001625.4(AK2):c.453C>A (p.Ser151=)
NM_001625.4(AK2):c.465G>A (p.Glu155=)
NM_001625.4(AK2):c.471C>T (p.Asn157=)
NM_001625.4(AK2):c.498+14G>A
NM_001625.4(AK2):c.498+14G>T
NM_001625.4(AK2):c.49C>A (p.Arg17=)
NM_001625.4(AK2):c.60G>A (p.Leu20=) rs1207555639
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303
NM_001625.4(AK2):c.654C>T (p.Val218=) rs765292604
NM_001625.4(AK2):c.87G>A (p.Gly29=)
NM_001625.4(AK2):c.94-8C>G
NM_001625.4(AK2):c.9C>T (p.Pro3=) rs2124403783

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.