List of variants reported as uncertain significance for metabolic disease involving other neurotransmitter deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile)	rs141039714	0.00034
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	rs121908539	0.00016
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser)	rs376426309	0.00009
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His)	rs200130685	0.00007
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile)	rs531738678	0.00005
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp)	rs777009433	0.00004
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe)	rs747598704	0.00002
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys)	rs116097205	0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)	rs1394345886	0.00001
NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del)	rs767780037
NM_000824.5(GLRB):c.904+5G>T
NM_001321967.2(ATAD1):c.-48C>G
NM_001321967.2(ATAD1):c.160C>G (p.Gln54Glu)	rs2493458479
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	rs117256383

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