ClinVar Miner

List of variants studied for sulfur metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_001498.4(GCLC):c.482A>G (p.Lys161Arg) rs376535220 0.00001
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) rs192349677
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_001032386.2(SUOX):c.599C>T (p.Pro200Leu) rs1435587153
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_006859.4(LIAS):c.393+7C>G rs372423537
NM_006859.4(LIAS):c.643del (p.Asp215fs) rs1744806313
NM_176806.4(MOCS2):c.30_34del (p.Leu10fs) rs1741117263

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.