ClinVar Miner

List of variants in gene TYR reported as likely pathogenic for not provided

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000372.5(TYR):c.289G>A (p.Gly97Arg) rs61753252 0.00003
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_000372.5(TYR):c.1099C>T (p.His367Tyr) rs776054795 0.00001
NM_000372.5(TYR):c.1101C>A (p.His367Gln) rs139091458 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) rs61753181 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.239G>A (p.Trp80Ter) rs1183890194 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NC_000011.9:g.(?_88960971)_(88961158_?)dup
NC_000011.9:g.(?_89017921)_(89018142_?)dup
NM_000372.4(TYR):c.139G>A rs796051878
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg) rs1013801316
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu) rs2135281765
NM_000372.5(TYR):c.1064C>G (p.Ala355Gly)
NM_000372.5(TYR):c.1130T>C (p.Val377Ala)
NM_000372.5(TYR):c.1136G>T (p.Gly379Val) rs886044493
NM_000372.5(TYR):c.1216C>G (p.Pro406Ala)
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1337G>A (p.Gly446Asp)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000372.5(TYR):c.155G>T (p.Arg52Ile) rs61753182
NM_000372.5(TYR):c.157G>C (p.Gly53Arg) rs1591133731
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.158G>T (p.Gly53Val)
NM_000372.5(TYR):c.163T>C (p.Cys55Arg)
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.266G>A (p.Cys89Tyr)
NM_000372.5(TYR):c.271T>C (p.Cys91Arg)
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.530T>A (p.Val177Asp) rs571810545
NM_000372.5(TYR):c.593T>G (p.Ile198Ser) rs750553908
NM_000372.5(TYR):c.605A>G (p.His202Arg)
NM_000372.5(TYR):c.614C>T (p.Pro205Leu)
NM_000372.5(TYR):c.635G>T (p.Arg212Ile) rs377209424
NM_000372.5(TYR):c.656A>C (p.Glu219Ala) rs2135242551
NM_000372.5(TYR):c.704A>G (p.Tyr235Cys)
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.745G>C (p.Asp249His)
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000372.5(TYR):c.818_819+1delinsTTT
NM_000372.5(TYR):c.820-1_820delinsTG
NM_000372.5(TYR):c.820-3del rs763374476
NM_000372.5(TYR):c.833G>T (p.Arg278Leu)
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
NM_000372.5(TYR):c.881A>T (p.Glu294Val)
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415

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