List of variants studied for inborn disorder of serine family metabolism by GeneReviews

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		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)	rs121964974	0.00016
NM_000481.4(AMT):c.959G>A (p.Arg320His)	rs121964985	0.00004
NM_000481.4(AMT):c.878-1G>A	rs181134220	0.00003
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)	rs386833550
NM_000481.4(AMT):c.125A>G (p.His42Arg)	rs121964983
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.709_713del (p.Lys237fs)	rs1057519315

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