ClinVar Miner

List of variants reported as pathogenic for albinism by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856

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