List of variants reported as pathogenic for galactosemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	rs111033773	0.00017
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	rs111033728	0.00006
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.413C>T (p.Thr138Met)	rs111033686	0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	rs111033693	0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	rs111033744	0.00002
NM_000154.2(GALK1):c.611+1G>T	rs982043960	0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000155.4(GALT):c.329-2A>C	rs111033667	0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln)	rs367543256	0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys)	rs111033695	0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	rs786204763	0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	rs111033790	0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met)	rs121908047	0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)	rs137853860	0.00001
NM_000154.2(GALK1):c.1067T>C (p.Leu356Pro)
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)	rs111033806
NM_000155.4(GALT):c.292G>C (p.Asp98His)	rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr)	rs771702963
NM_000155.4(GALT):c.502G>T (p.Val168Leu)	rs367543258
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)	rs1064794295
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800

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