List of variants in gene GALC reported as likely pathogenic by Natera, Inc.

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: 8

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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.1858G>A (p.Gly620Arg)	rs779864190	0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	rs766762599	0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)	rs756690487	0.00001
NM_000153.4(GALC):c.1033+1G>A	rs2139996044
NM_000153.4(GALC):c.1161+1del	rs1555381417
NM_000153.4(GALC):c.264+1G>A	rs1458925593
NM_000153.4(GALC):c.560A>T (p.Asp187Val)	rs997021099

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