ClinVar Miner

List of variants studied for Oculocutaneous albinism type 3

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000550.3(TYRP1):c.1409-18dup rs147565972 0.51109
NM_000550.3(TYRP1):c.*908T>C rs1063380 0.50921
NM_000550.3(TYRP1):c.*853A>C rs910 0.49606
NM_000550.3(TYRP1):c.*123C>A rs683 0.48015
NM_000550.3(TYRP1):c.*404A>T rs2762464 0.46929
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.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_000550.3(TYRP1):c.*229C>G rs116149666 0.00650
NM_000550.3(TYRP1):c.1082-8G>A rs79992094 0.00650
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600 0.00644
NM_000550.3(TYRP1):c.*509C>A rs74941076 0.00443
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_000550.3(TYRP1):c.*259T>C rs76349729 0.00172
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405 0.00171
NM_000550.3(TYRP1):c.1082-9T>C rs144041081 0.00166
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.1029C>T (p.Asp343=) rs145061390 0.00089
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.914-4G>T rs376740467 0.00038
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660 0.00036
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys) rs146027807 0.00036
NM_000550.3(TYRP1):c.1263T>C (p.Asp421=) rs150370598 0.00032
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00022
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
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.*568T>C rs142323339 0.00013
NM_000550.3(TYRP1):c.*518A>G rs748262937 0.00011
NM_000550.3(TYRP1):c.-6A>G rs200838609 0.00008
NM_000550.3(TYRP1):c.*944A>C rs967959444 0.00006
NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met) rs199823942 0.00006
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg) rs749542038 0.00006
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) rs761776915 0.00006
NM_000550.3(TYRP1):c.*458A>G rs549032453 0.00005
NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val) rs148248971 0.00005
NM_000550.3(TYRP1):c.1505G>A (p.Arg502His) rs371392847 0.00005
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.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009 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.926G>A (p.Gly309Glu) rs149856598 0.00004
NM_000550.3(TYRP1):c.-70C>T rs766836831 0.00003
NM_000550.3(TYRP1):c.1082-5T>A rs201296701 0.00003
NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile) rs761590226 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.*195C>T rs935337985 0.00001
NM_000550.3(TYRP1):c.*59A>C rs140364108 0.00001
NM_000550.3(TYRP1):c.*65T>A rs878881586 0.00001
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.1510A>G (p.Arg504Gly) rs1227640938 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.933T>C (p.Ile311=) rs1818182191 0.00001
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*727C>A rs535597991
NM_000550.3(TYRP1):c.*775G>A rs1818332158
NM_000550.3(TYRP1):c.*934T>G rs1818336065
NM_000550.3(TYRP1):c.*98T>A rs1818316894
NM_000550.3(TYRP1):c.-69G>A rs181350173
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.3(TYRP1):c.1261+20C>T rs2733832
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.138C>T (p.Ser46=) rs185178312
NM_000550.3(TYRP1):c.1408+5G>C
NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn) rs201605146
NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn) rs746824848
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
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(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_000550.3:c.1261_1264dup

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