List of variants reported as likely pathogenic for carbohydrate metabolism disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)	rs200328403	0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	rs780517804	0.00002
NM_000207.3(INS):c.26C>G (p.Pro9Arg)	rs1564912403
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_002299.4(LCT):c.4866+2T>G
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)

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