ClinVar Miner

List of variants in gene TYR studied for not specified

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01433
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01429
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00047
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser) rs13312744 0.00032
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00003
NM_000372.5(TYR):c.721G>A (p.Ala241Thr) rs538081629 0.00003
NM_000372.5(TYR):c.-10T>C rs368061096 0.00002
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr) rs368604842 0.00002
NM_000372.5(TYR):c.51T>C (p.Ala17=) rs546537919 0.00002
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys) rs1565392064 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.26T>C (p.Leu9Pro) rs1238837002 0.00001
NM_000372.5(TYR):c.446A>C (p.Tyr149Ser) rs797046082 0.00001
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049 0.00001
NM_000372.5(TYR):c.553A>G (p.Met185Val) rs1943257744 0.00001
NM_000372.5(TYR):c.1063G>T (p.Ala355Ser)
NM_000372.5(TYR):c.1082G>A (p.Ser361Asn)
NM_000372.5(TYR):c.1109T>C (p.Met370Thr) rs61754385
NM_000372.5(TYR):c.1150C>T (p.Pro384Ser)
NM_000372.5(TYR):c.1162C>T (p.Leu388Phe)
NM_000372.5(TYR):c.1171G>C (p.Ala391Pro)
NM_000372.5(TYR):c.1177G>C (p.Val393Leu)
NM_000372.5(TYR):c.1199G>C (p.Trp400Ser)
NM_000372.5(TYR):c.1278G>C (p.Met426Ile)
NM_000372.5(TYR):c.1283C>T (p.Pro428Leu)
NM_000372.5(TYR):c.1292C>A (p.Pro431Gln)
NM_000372.5(TYR):c.1331A>G (p.Asp444Gly)
NM_000372.5(TYR):c.137G>C (p.Cys46Ser) rs2496528053
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs) rs765024056
NM_000372.5(TYR):c.334T>C (p.Cys112Arg)
NM_000372.5(TYR):c.529G>A (p.Val177Ile)
NM_000372.5(TYR):c.538C>A (p.His180Asn)
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.613C>T (p.Pro205Ser) rs61754362
NM_000372.5(TYR):c.61C>A (p.Pro21Thr)
NM_000372.5(TYR):c.707G>C (p.Trp236Ser) rs61754367
NM_000372.5(TYR):c.708G>C (p.Trp236Cys) rs769204360
NM_000372.5(TYR):c.728A>C (p.Lys243Thr)
NM_000372.5(TYR):c.767A>G (p.His256Arg) rs1289102976
NM_000372.5(TYR):c.823G>A (p.Val275Ile)
NM_000372.5(TYR):c.841G>A (p.Glu281Lys) rs142629239
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
NM_000372.5(TYR):c.953T>C (p.Val318Ala)
NM_000372.5(TYR):c.965T>C (p.Leu322Pro)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.994A>T (p.Met332Leu) rs746950059

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