ClinVar Miner

List of variants reported as pathogenic for albinism by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904

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