ClinVar Miner

List of variants reported as likely benign for Galactosemia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000155.4(GALT):c.366T>G (p.Ala122=) rs777382338 0.00001
NM_000155.4(GALT):c.762G>A (p.Leu254=) rs748639317 0.00001
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612

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