ClinVar Miner

List of variants studied for Oculocutaneous albinism type 3

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Total variants: 81
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HGVS dbSNP
NM_000550.3(TYRP1):c.*123C>A rs683
NM_000550.3(TYRP1):c.*195C>T
NM_000550.3(TYRP1):c.*229C>G
NM_000550.3(TYRP1):c.*259T>C rs76349729
NM_000550.3(TYRP1):c.*404A>T rs2762464
NM_000550.3(TYRP1):c.*458A>G rs549032453
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.*518A>G
NM_000550.3(TYRP1):c.*568T>C rs142323339
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*59A>C rs140364108
NM_000550.3(TYRP1):c.*65T>A
NM_000550.3(TYRP1):c.*727C>A
NM_000550.3(TYRP1):c.*775G>A
NM_000550.3(TYRP1):c.*853A>C rs910
NM_000550.3(TYRP1):c.*908T>C rs1063380
NM_000550.3(TYRP1):c.*934T>G
NM_000550.3(TYRP1):c.*944A>C
NM_000550.3(TYRP1):c.*98T>A
NM_000550.3(TYRP1):c.-111T>C
NM_000550.3(TYRP1):c.-119G>T rs147861369
NM_000550.3(TYRP1):c.-15C>G rs200678533
NM_000550.3(TYRP1):c.-161G>T rs7867043
NM_000550.3(TYRP1):c.-167G>A rs181711630
NM_000550.3(TYRP1):c.-69G>A
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.-6A>G rs200838609
NM_000550.3(TYRP1):c.-70C>T rs766836831
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1082-5T>A
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met)
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg)
NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile)
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000550.3(TYRP1):c.1263T>C (p.Asp421=) rs150370598
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) rs761776915
NM_000550.3(TYRP1):c.138C>T (p.Ser46=)
NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn)
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660
NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn)
NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg)
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.1505G>A (p.Arg502His)
NM_000550.3(TYRP1):c.1510A>G (p.Arg504Gly)
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.385G>C (p.Val129Leu)
NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys)
NM_000550.3(TYRP1):c.436C>T (p.Arg146Trp)
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys)
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413
NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro)
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)
NM_000550.3(TYRP1):c.689G>A (p.Arg230His)
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939
NM_000550.3(TYRP1):c.786G>A (p.Thr262=) rs200160846
NM_000550.3(TYRP1):c.904C>G (p.Leu302Val)
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_000550.3(TYRP1):c.914-4G>T
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu)
NM_000550.3(TYRP1):c.933T>C (p.Ile311=)
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala)

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