ClinVar Miner

List of variants in gene TYRP1 studied for Oculocutaneous albinism type 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359 0.04615
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166 0.04447
NM_000550.3(TYRP1):c.-161G>T rs7867043 0.04161
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405 0.00171
NM_000550.3(TYRP1):c.913+9C>T rs147268542 0.00158
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) rs146838872 0.00128
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp) rs141834891 0.00084
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939 0.00074
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys) rs146027807 0.00036
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00022
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_000550.3(TYRP1):c.436C>T (p.Arg146Trp) rs201293896 0.00015
NM_000550.3(TYRP1):c.-6A>G rs200838609 0.00008
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg) rs749542038 0.00006
NM_000550.3(TYRP1):c.-111T>C rs920991316 0.00004
NM_000550.3(TYRP1):c.-167G>A rs181711630 0.00004
NM_000550.3(TYRP1):c.689G>A (p.Arg230His) rs372466491 0.00004
NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter) rs1435975707 0.00004
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_000550.3(TYRP1):c.786G>A (p.Thr262=) rs200160846 0.00003
NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg) rs752263450 0.00002
NM_000550.3(TYRP1):c.-119G>T rs147861369 0.00001
NM_000550.3(TYRP1):c.-15C>G rs200678533 0.00001
NM_000550.3(TYRP1):c.187G>A (p.Gly63Ser) rs201457510 0.00001
NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys) rs937119709 0.00001
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413 0.00001
NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro) rs1818070387 0.00001
NM_000550.3(TYRP1):c.904C>G (p.Leu302Val) rs770141693 0.00001
NM_000550.3(TYRP1):c.-69G>A rs181350173
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.138C>T (p.Ser46=) rs185178312
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.385G>C (p.Val129Leu) rs759267338
NM_000550.3(TYRP1):c.913+5G>A rs374769303
NM_000550.3:c.1261_1264dup

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.