List of variants studied for inborn disorder of amino acid and other organic acid metabolism by GenomeConnect - Brain Gene Registry

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)	rs141723499	0.00016
NM_006859.4(LIAS):c.393+4G>A	rs368453789	0.00016
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	rs386833587	0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)	rs1016086446	0.00001
NM_000170.3(GLDC):c.580G>A (p.Ala194Thr)
NM_000481.4(AMT):c.1112G>A (p.Arg371His)	rs147006017
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)	rs1424827158
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)	rs80338740

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