ClinVar Miner

List of variants in gene TYRP1 studied for oculocutaneous albinism

Included ClinVar conditions (23):
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Gene type:
ClinVar version:
Total variants: 41
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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 0.00027
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.520G>T (p.Gly174Cys) rs78071458 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.351G>A (p.Trp117Ter) rs780433845 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.256G>T (p.Asp86Tyr) rs1563851602
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.88T>C (p.Cys30Arg)
NM_000550.3(TYRP1):c.913+5G>A rs374769303
NM_000550.3:c.1261_1264dup

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