ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Laboratory Cellgenetics, GMDL Cellgenetics

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)

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