ClinVar Miner

List of variants reported as pathogenic for albinism by Science and Research Branch, Islamic Azad University,Islamic Azad University

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000275.3(OCA2):c.1044+1G>T rs185504549
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
Single allele

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