List of variants reported as likely pathogenic for inborn disorder of amino acid metabolism by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)	rs1031569954	0.00001
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)	rs1940645842
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)	rs1243059404
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)	rs1708095030
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)	rs1941316527
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)	rs1576294110
NM_000187.4(HGD):c.753C>T (p.Gly251=)	rs1357020990
NM_000282.4(PCCA):c.1643+1_1643+2dup	rs1555425626
NM_000282.4(PCCA):c.1899+2_1899+3insCT	rs2081058900
NM_000532.5(PCCB):c.1091-8_1091-3del	rs1249235758
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)	rs1553778909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	rs1599294284
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)	rs879255702
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)	rs1601071099

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