ClinVar Miner

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

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys) rs878854351

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