ClinVar Miner

List of variants reported as likely pathogenic for disorder of metabolite absorption and transport by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu) rs200018415 0.00011
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_006580.4(CLDN16):c.217+5G>A rs751959432 0.00002
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.4003G>C (p.Gly1335Arg)
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_052845.4(MMAB):c.584+2T>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.