List of variants studied for amino acid metabolism disease by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)	rs879255502	0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)	rs139149160	0.00003
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)	rs773398782	0.00002
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)	rs879255501	0.00001
NC_000003.12:g.136246220_136254271del
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)	rs879255505
NM_000159.4(GCDH):c.731del (p.Gly244fs)	rs878853244
NM_000531.6(OTC):c.254T>C (p.Ile85Thr)	rs878853245
NM_000531.6(OTC):c.72_77+18del	rs863225061
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs)	rs878853248
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val)	rs878853249
NM_014251.3(SLC25A13):c.495del (p.Ala166fs)	rs879255504
NM_014251.3(SLC25A13):c.616-11A>G	rs879255503
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)	rs746155190

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