ClinVar Miner

List of variants in gene OCA2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.*1T>C rs138228425 0.00081
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) rs376863406 0.00002
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly) rs752888326

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