ClinVar Miner

List of variants studied for Glycine encephalopathy by GenomeConnect - Brain Gene Registry

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_000170.3(GLDC):c.580G>A (p.Ala194Thr)
NM_000481.4(AMT):c.1112G>A (p.Arg371His)	rs147006017

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