List of variants studied for galactosemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	rs28940884	0.00596
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_000154.2(GALK1):c.766C>T (p.Arg256Trp)	rs376790302	0.00010
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00004
NM_000155.4(GALT):c.200G>A (p.Arg67His)	rs758430398	0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His)	rs111033735	0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	rs780517804	0.00002
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	rs111033749	0.00001
NM_000155.4(GALT):c.127_130del (p.Leu43fs)
NM_000155.4(GALT):c.253-1G>A
NM_000155.4(GALT):c.377+26A>G
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)	rs111033741
NM_000155.4(GALT):c.820+2T>C

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