List of variants in gene SLC6A9 reported as pathogenic for Atypical glycine encephalopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly)	rs1057519313
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)	rs1057519314
NM_001024845.3(SLC6A9):c.31-764_31-763del
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs)	rs1057519315
NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter)	rs201437896
NM_001024845.3(SLC6A9):c.941dup (p.Phe315fs)

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