ClinVar Miner

List of variants reported as pathogenic for albinism by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000259.3(MYO5A):c.2012+1G>T
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722

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