ClinVar Miner

List of variants reported as likely pathogenic for galactosemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
NM_000154.2(GALK1):c.686dup (p.His229fs)
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.213dup (p.Asn72fs)
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.424A>G (p.Met142Val) rs111033692
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu) rs1261697960

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