ClinVar Miner

List of variants reported as likely pathogenic for classic galactosemia by Myriad Genetics, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
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.626A>G (p.Tyr209Cys) rs111033744 0.00002
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.209del (p.Pro70fs)
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.412del (p.Thr138fs)
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)
NM_000155.4(GALT):c.514G>T (p.Glu172Ter) rs780156428
NM_000155.4(GALT):c.561C>A (p.Cys187Ter) rs1821157539
NM_000155.4(GALT):c.615_616del (p.Gln206fs)
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)
NM_000155.4(GALT):c.652_653del (p.Leu218fs)
NM_000155.4(GALT):c.669_670del (p.Gln224fs)
NM_000155.4(GALT):c.670C>T (p.Gln224Ter) rs1821166869
NM_000155.4(GALT):c.680_681del (p.Leu227fs)
NM_000155.4(GALT):c.737G>A (p.Trp246Ter) rs1821176206
NM_000155.4(GALT):c.754del (p.Gln252fs)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter) rs1821178833
NM_000155.4(GALT):c.849_850del (p.Leu283fs)
NM_000155.4(GALT):c.853A>T (p.Lys285Ter) rs1821183505
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter) rs1554709447

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