ClinVar Miner

List of variants studied for amino acid metabolism disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
Single allele

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