ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Biochemical Genetics Laboratory, National Taiwan University

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.16-2063A>C rs1168687230 0.00001
NM_000187.4(HGD):c.587C>T (p.Thr196Ile) rs781491692 0.00001
NM_000187.4(HGD):c.1031del (p.Gly344fs) rs1295089623
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg) rs2107489383

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