List of variants reported as pathogenic for metabolic disease involving other neurotransmitter deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter)	rs2113349880
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)	rs121918408
NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu)	rs745539706

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