ClinVar Miner

List of variants reported as uncertain significance for Galactosemia

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Total variants: 41
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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.197C>T (p.Pro66Leu) rs111033656 0.00004
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.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.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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