ClinVar Miner

List of variants reported as likely pathogenic for classic galactosemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.904+1G>T rs367543271

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