ClinVar Miner

List of variants studied for albinism by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp) rs751411629
NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) rs1555375711
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933

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