List of variants studied for classic galactosemia by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000155.4(GALT):c.378-27G>C	rs41274865	0.04615
NM_000155.4(GALT):c.508-24G>A	rs41274867	0.04612
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000155.4(GALT):c.864C>T (p.Asn288=)	rs372134800	0.00010
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	rs111033800	0.00002
NM_000155.2(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	rs111033836
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)	rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)	rs886042088
NM_000155.4(GALT):c.2T>C (p.Met1Thr)	rs771702963
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000155.4(GALT):c.820+13A>G	rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)	rs1587240095
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)	rs1587240180

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