ClinVar Miner

Variants in gene TYR with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 47
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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.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.1366+1G>T rs369610829 0.00002
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys) rs149912348 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys) rs1944765423 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 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.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
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.178_179del (p.Leu60fs)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415

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