List of variants reported as pathogenic for Glycine encephalopathy by Counsyl

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	rs386833517	0.00003
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)	rs386833521	0.00001
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)	rs751025203	0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)	rs1430968530	0.00001
NM_000170.3(GLDC):c.2919+1G>A	rs386833575	0.00001
NM_000170.3(GLDC):c.1580+2T>G	rs1554646710
NM_000170.3(GLDC):c.2203-2A>G	rs386833545
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)	rs1163356968
NM_000170.3(GLDC):c.334+1G>T	rs978795483
NM_000481.4(AMT):c.1033+2T>C	rs1553638247
NM_000481.4(AMT):c.471+2T>C	rs386833684

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