List of variants in gene GALC reported as likely pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)	rs1200769534	0.00001
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)	rs1595190129
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp)	rs776098499
NM_000153.4(GALC):c.65_74del (p.Gly22fs)	rs1595246385
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)	rs746922378
NM_000153.4(GALC):c.896G>A (p.Gly299Asp)	rs1566993126

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