ClinVar Miner

List of variants in gene SCP2D1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_178483.3(SCP2D1):c.332C>T (p.Pro111Leu) rs376844337 0.00009
NM_178483.3(SCP2D1):c.290C>T (p.Pro97Leu) rs773230277 0.00006
NM_178483.3(SCP2D1):c.451A>G (p.Lys151Glu) rs767064039 0.00003
NM_178483.3(SCP2D1):c.285G>A (p.Met95Ile) rs772324911 0.00001
NM_178483.3(SCP2D1):c.347T>C (p.Met116Thr) rs2061499525 0.00001
NM_178483.3(SCP2D1):c.364A>G (p.Lys122Glu) rs749077593 0.00001
NM_178483.3(SCP2D1):c.82G>A (p.Val28Ile) rs575292008 0.00001
NM_178483.3(SCP2D1):c.94G>A (p.Ala32Thr) rs761177327 0.00001
NR_161342.1(SCP2D1-AS1):n.397A>G rs535200591 0.00001
NM_178483.3(SCP2D1):c.112G>C (p.Glu38Gln)
NM_178483.3(SCP2D1):c.129G>T (p.Glu43Asp) rs2517663857
NM_178483.3(SCP2D1):c.155G>A (p.Arg52Lys)
NM_178483.3(SCP2D1):c.187G>C (p.Val63Leu)
NM_178483.3(SCP2D1):c.302G>C (p.Arg101Thr)
NM_178483.3(SCP2D1):c.307C>A (p.Pro103Thr)
NM_178483.3(SCP2D1):c.388C>T (p.Leu130Phe)
NM_178483.3(SCP2D1):c.422T>C (p.Leu141Pro)
NM_178483.3(SCP2D1):c.63G>T (p.Gln21His) rs764298632
NM_178483.3(SCP2D1):c.76G>A (p.Gly26Ser)
NM_178483.3(SCP2D1):c.83T>A (p.Val28Asp) rs2517663797

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.