ClinVar Miner

List of variants in gene CYP4V2 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_207352.4(CYP4V2):c.*160A>G rs187506967 0.00263
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=) rs145611966 0.00169
NM_207352.4(CYP4V2):c.*175A>G rs192122143 0.00158
NM_207352.4(CYP4V2):c.282C>T (p.Val94=) rs142775374 0.00035
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His) rs138739819 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_207352.4(CYP4V2):c.674+14T>C rs201205689 0.00020
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429 0.00014
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr) rs376015936 0.00013
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala) rs143711287 0.00007
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys) rs200623218 0.00006
NM_207352.4(CYP4V2):c.*172T>C rs1043961395 0.00004
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895 0.00004
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val) rs762821992 0.00003
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607 0.00003
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=) rs72646292 0.00002
NM_207352.4(CYP4V2):c.1327C>T (p.Arg443Trp) rs777774802 0.00001
NM_207352.4(CYP4V2):c.1372G>A (p.Val458Met) rs202204817 0.00001
NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro) rs778598903 0.00001
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val) rs143272248 0.00001
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184 0.00001
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val) rs531538384 0.00001
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile) rs761190623 0.00001
NM_207352.4(CYP4V2):c.780C>G (p.Ile260Met) rs753561422 0.00001
NM_207352.4(CYP4V2):c.815G>A (p.Arg272Gln) rs1228435590 0.00001
NM_207352.4(CYP4V2):c.82A>G (p.Ser28Gly) rs755702568 0.00001
NM_207352.4(CYP4V2):c.*198A>T rs150697121
NM_207352.4(CYP4V2):c.*204T>C rs577711483
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=) rs1736463662
NM_207352.4(CYP4V2):c.106A>G (p.Arg36Gly)
NM_207352.4(CYP4V2):c.1091-15A>G rs1300763823
NM_207352.4(CYP4V2):c.1216T>C (p.Cys406Arg)
NM_207352.4(CYP4V2):c.1225+14A>G rs886059282
NM_207352.4(CYP4V2):c.1229G>T (p.Gly410Val) rs566680277
NM_207352.4(CYP4V2):c.123G>A (p.Ala41=)
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1378T>C (p.Phe460Leu) rs1736634848
NM_207352.4(CYP4V2):c.1526C>G (p.Pro509Arg)
NM_207352.4(CYP4V2):c.152C>T (p.Pro51Leu)
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser) rs886059281
NM_207352.4(CYP4V2):c.651C>T (p.Ser217=)
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn) rs913510827
NM_207352.4(CYP4V2):c.959G>T (p.Arg320Leu)
NM_207352.4(CYP4V2):c.960A>T (p.Arg320=)
NM_207352.4(CYP4V2):c.987+7T>C rs1736302352

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