ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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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.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) rs61753181 0.00001
NM_000372.5(TYR):c.1037-3C>G
NM_000372.5(TYR):c.1130T>C (p.Val377Ala)
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.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028

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