ClinVar Miner

List of variants in gene LURAP1L, TYRP1 studied for Oculocutaneous albinism type 3

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Total variants: 48
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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.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.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.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.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.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.914-4G>T rs376740467
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

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