ClinVar Miner

List of variants reported as likely pathogenic for albinism by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_205850.3(SLC24A5):c.1078+1G>A rs1450652793

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