ClinVar Miner

List of variants studied for albinism by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins 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
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879

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