ClinVar Miner

List of variants reported as likely pathogenic for albinism by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314

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