List of variants in gene GALC reported as pathogenic by Eurofins NTD LLC (GA)

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1592G>A (p.Arg531His)	rs200378205	0.00004
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)	rs752537626	0.00003
NM_000153.4(GALC):c.430del (p.Ile144fs)	rs775277935	0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)	rs202131052	0.00002
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)	rs771111145	0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)	rs756352952	0.00001
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)	rs886043419
NM_000153.4(GALC):c.1158_1161+6del	rs759068540
NM_000153.4(GALC):c.1161+2T>G	rs398123175
NM_000153.4(GALC):c.1488_1489+2del	rs1555379355
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)	rs1566972341
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)	rs766310671

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