ClinVar Miner

List of variants studied for Galactosylceramide beta-galactosidase deficiency by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
NM_000153.4(GALC):c.1821dup (p.Thr608fs) rs2139941220
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000153.4(GALC):c.1964del (p.Pro655fs) rs2139925832
NM_000153.4(GALC):c.739G>T (p.Val247Phe) rs2140016089
NM_018418.5(SPATA7):c.239-522_239-436del

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