List of variants reported as uncertain significance for galactosemia by Genome-Nilou Lab

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)	rs536478616	0.00011
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000155.4(GALT):c.68C>A (p.Thr23Asn)	rs1365354002	0.00002
NM_000154.2(GALK1):c.321C>T (p.Ala107=)	rs771880802	0.00001
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg)	rs2061565422
NM_000155.4(GALT):c.630G>A (p.Lys210=)	rs367543260
NM_001008216.2(GALE):c.529-11A>G

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