ClinVar Miner

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

Included ClinVar conditions (44):
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.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.3(TYRP1):c.1261+1G>A rs140365820

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