ClinVar Miner

List of variants reported as pathogenic for Galactosemia

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
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.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808 0.00001
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.377+1G>T rs111033681
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800

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