List of variants reported as likely pathogenic for inborn disorder of amino acid metabolism by Undiagnosed Diseases Network, NIH

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)	rs761879076	0.00004
NM_001080442.3(SLC38A8):c.913T>C (p.Ser305Pro)	rs1057521634
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)	rs1553798675
NM_013247.5(HTRA2):c.1216G>T (p.Gly406Cys)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)	rs374052333
NM_177972.3(TUB):c.1215+1G>A	rs1589996458

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