ClinVar Miner

List of variants reported as likely pathogenic for Tyrosinase-positive oculocutaneous albinism by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.1045-10T>G
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) rs200398581
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1116+6T>C
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)

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