ClinVar Miner

List of variants reported as uncertain significance for Glutamate pyruvate transaminase 2 deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_133443.4(GPT2):c.1120C>T (p.Arg374Cys)	rs781284492
NM_133443.4(GPT2):c.1211G>T (p.Arg404Leu)
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser)	rs745565332

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