ClinVar Miner

List of variants in gene LURAP1L, TYRP1 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000550.2(TYRP1):c.*123C>A rs683
NM_000550.2(TYRP1):c.*259T>C rs76349729
NM_000550.2(TYRP1):c.*298_*301delAAGT rs71329877
NM_000550.2(TYRP1):c.*319_*320dupTT rs886063414
NM_000550.2(TYRP1):c.*404A>T rs2762464
NM_000550.2(TYRP1):c.*458A>G rs549032453
NM_000550.2(TYRP1):c.*472_*475delATTA rs71329878
NM_000550.2(TYRP1):c.*509C>A rs74941076
NM_000550.2(TYRP1):c.*568T>C rs142323339
NM_000550.2(TYRP1):c.*573T>G rs886063415
NM_000550.2(TYRP1):c.*591G>T rs886063416
NM_000550.2(TYRP1):c.*59A>C rs140364108
NM_000550.2(TYRP1):c.*853A>C rs910
NM_000550.2(TYRP1):c.*908T>C rs1063380
NM_000550.2(TYRP1):c.*955dupT rs763340664
NM_000550.2(TYRP1):c.1029C>T (p.Asp343=) rs145061390
NM_000550.2(TYRP1):c.1057_1060delAACA (p.Asn353Valfs) rs387906562
NM_000550.2(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.2(TYRP1):c.1082-8G>A rs79992094
NM_000550.2(TYRP1):c.1082-9T>C rs144041081
NM_000550.2(TYRP1):c.1103delA (p.Lys368Serfs) rs387906560
NM_000550.2(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.2(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.2(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.2(TYRP1):c.1261+1G>A rs140365820
NM_000550.2(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.2(TYRP1):c.1534C>T (p.Gln512Ter)
NM_000550.2(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.2(TYRP1):c.917C>G (p.Thr306Ser) rs773285733

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