ClinVar Miner

List of variants in gene DTNBP1 reported as uncertain significance for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001271667.1(DTNBP1):c.772_773AG[2] (p.Glu259fs) rs752074481
NM_032122.4(DTNBP1):c.*138A>G rs886061222
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032122.4(DTNBP1):c.*2T>C rs201409652
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) rs886061223
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.812-13C>T rs377254012
NM_183040.2(DTNBP1):c.-109G>A rs559661829
NM_183040.2(DTNBP1):c.-142G>A rs530331862
NM_183040.2(DTNBP1):c.-159G>A rs886061227
NM_183040.2(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_183040.2(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_183040.2(DTNBP1):c.355+10A>G rs368923800
NM_183040.2(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_183040.2(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_183040.2(DTNBP1):c.489-12_489-8del rs199770715
NM_183040.2(DTNBP1):c.489-21dup rs199770715
NM_183040.2(DTNBP1):c.489-8del rs199770715
NM_183040.2(DTNBP1):c.532G>T (p.Ala178Ser) rs75704383
NM_183040.2(DTNBP1):c.667+3G>A rs755341865
NM_183040.2(DTNBP1):c.668-14del rs886061225
NM_183040.2(DTNBP1):c.668-8A>G rs757305528
NM_183040.2(DTNBP1):c.741G>A (p.Ser247=) rs886061224

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.