ClinVar Miner

List of variants reported as likely pathogenic for disorder of tyrosine metabolism by Natera, Inc.

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000137.4(FAH):c.315-3C>G rs1171235203 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000360.4(TH):c.1200+2T>C rs2133690169

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