ClinVar Miner

List of variants reported as uncertain significance by Care4Rare-SOLVE, CHEO

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_018052.5(VAC14):c.923T>A (p.Leu308Ter) rs769608639 0.00002
NM_021160.3(ABHD16A):c.353G>A (p.Arg118His) rs149790845 0.00002
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_018052.5(VAC14):c.1895C>T (p.Thr632Met) rs1060499667 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_000900.5(MGP):c.56G>T (p.Cys19Phe) rs1555094473
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_005499.3(UBA2):c.364C>G (p.Arg122Gly) rs1599889628
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_021160.3(ABHD16A):c.1226T>G (p.Leu409Arg) rs2151222951
NM_021160.3(ABHD16A):c.1333C>T (p.Arg445Ter) rs1452147400
NM_021160.3(ABHD16A):c.362A>T (p.Asn121Ile) rs1804466196
NM_021160.3(ABHD16A):c.573del (p.Thr192fs) rs2151235621
NM_021160.3(ABHD16A):c.755G>A (p.Arg252Gln) rs1803887518
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061

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.