List of variants in gene GALT reported as uncertain significance for Galactosemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	rs61735983	0.00101
NM_000155.4(GALT):c.687+9G>C	rs117998880	0.00057
NM_000155.4(GALT):c.*8G>A	rs370285476	0.00029
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)	rs111033819	0.00014
NM_000155.4(GALT):c.688-4C>T	rs374014228	0.00014
NM_000155.4(GALT):c.864C>T (p.Asn288=)	rs372134800	0.00010
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	rs111033750	0.00005
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)	rs1413579895	0.00003
NM_000155.4(GALT):c.1116C>T (p.Asp372=)	rs757314660	0.00002
NM_000155.4(GALT):c.268G>C (p.Asp90His)	rs201330799	0.00002
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)	rs111033806	0.00001
NM_000155.4(GALT):c.253-6C>T	rs753450355	0.00001
NM_000155.4(GALT):c.328+7T>C	rs774350978	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000155.4(GALT):c.773G>A (p.Arg258His)	rs773766027	0.00001
NM_000155.4(GALT):c.820+4A>C	rs398123186	0.00001
NM_000155.4(GALT):c.851C>A (p.Thr284Asn)	rs753364304	0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr)	rs367543266	0.00001
NM_000155.4(GALT):c.-11C>A	rs1821109207
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)	rs775317639
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)	rs1821203474
NM_000155.4(GALT):c.1094A>G (p.His365Arg)	rs1821228599
NM_000155.4(GALT):c.285T>G (p.Phe95Leu)	rs111033668
NM_000155.4(GALT):c.32G>A (p.Arg11His)	rs757632977
NM_000155.4(GALT):c.377+7A>G	rs376026879
NM_000155.4(GALT):c.405G>A (p.Ser135=)	rs141232328
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)	rs111033686
NM_000155.4(GALT):c.502_504del (p.Val168del)	rs1219976432
NM_000155.4(GALT):c.550C>T (p.His184Tyr)	rs111033716
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)	rs111033722
NM_000155.4(GALT):c.715T>C (p.Trp239Arg)	rs1336294207
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)	rs1564101859
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)	rs111033762
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)	rs1554709431
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)	rs111033764
NM_000155.4(GALT):c.904+7C>A	rs1564102104
NM_000155.4(GALT):c.91C>A (p.His31Asn)	rs111033643

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