List of variants in gene GALC reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
NM_000153.4(GALC):c.1821dup (p.Thr608fs)	rs2139941220
NM_000153.4(GALC):c.1835-1G>A	rs1555378562
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
NM_000153.4(GALC):c.1964del (p.Pro655fs)	rs2139925832
NM_000153.4(GALC):c.739G>T (p.Val247Phe)	rs2140016089

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