List of variants in gene GALC reported as likely pathogenic by Eurofins NTD LLC (GA)

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)	rs375867319	0.00001
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	rs794727116
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)	rs886042645
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)	rs398123177

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