ClinVar Miner

List of variants studied for amino acid metabolism disease by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala) rs1463411745

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