List of variants reported as pathogenic for Galactosylceramide beta-galactosidase deficiency by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661	0.00018
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)	rs200960659	0.00009
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)	rs200532368	0.00001
NM_000153.4(GALC):c.7dup (p.Glu3fs)	rs1555384381

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