ClinVar Miner

List of variants in gene OCA2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.751G>A (p.Val251Met) rs147432138 0.00038
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.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
GRCh37/hg19 15q13.1(chr15:28171273-28171400)x1
NM_000275.3(OCA2):c.1138G>A (p.Val380Met) rs41529845
NM_000275.3(OCA2):c.1317C>T (p.Phe439=)
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr) rs121918170
NM_000275.3(OCA2):c.163del (p.Ala55fs) rs1254334474
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro) rs768169106
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys) rs1567114551
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.2336del (p.Gly779fs) rs1261095563
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) rs2035478131
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr) rs2044640419
NM_000275.3(OCA2):c.573+6T>C rs2042700750
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236

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