ClinVar Miner

List of variants reported as likely benign for galactosemia by Genome-Nilou Lab

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.1108-40C>T	rs743554	0.16712
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000154.2(GALK1):c.216G>A (p.Leu72=)	rs752773767	0.00001

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