List of variants in gene GALT, LOC130001683 studied for Galactosemia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	rs111033656	0.00004
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	rs111033658	0.00001
NM_000155.4(GALT):c.252+1G>A	rs768154316	0.00001
NM_000155.4(GALT):c.172G>A (p.Glu58Lys)	rs1554709147
NM_000155.4(GALT):c.203A>C (p.His68Pro)	rs193922247
NM_000155.4(GALT):c.211C>G (p.Leu71Val)	rs143994870
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663

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