ClinVar Miner

List of variants studied for albinism by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636

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