ClinVar Miner

List of variants in gene combination LURAP1L, TYRP1 reported as likely pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009

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