ClinVar Miner

List of variants studied for galactosemia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
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.253-6C>G
NM_000155.4(GALT):c.697G>T (p.Val233Phe)
NM_000155.4(GALT):c.794del (p.Pro265fs)

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