List of variants in gene GALC reported as benign by Genome-Nilou Lab

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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.1698A>T (p.Val566=)	rs421466	0.95773
NM_000153.4(GALC):c.1620A>G (p.Thr540=)	rs367327	0.95611
NM_000153.4(GALC):c.1251+150C>T	rs417521	0.95597
NM_000153.4(GALC):c.1834+5C>G	rs448805	0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)	rs421262	0.95462
NM_000153.4(GALC):c.1835-79A>G	rs417276	0.95459
NM_000153.4(GALC):c.1339-61C>T	rs398343	0.95455
NM_000153.4(GALC):c.196-43C>T	rs2289511	0.59150
NM_000153.4(GALC):c.1670+60C>T	rs366615	0.49953
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)	rs398607	0.49946
NM_000153.4(GALC):c.1671-15C>T	rs12432149	0.45011
NM_000153.4(GALC):c.1911+122C>G	rs45567441	0.44852
NM_000153.4(GALC):c.1911+129G>A	rs45626938	0.44823
NM_000153.4(GALC):c.1350C>T (p.Ser450=)	rs398076	0.39907
NM_000153.4(GALC):c.264+108G>A	rs2245387	0.30074
NM_000153.4(GALC):c.984G>A (p.Gln328=)	rs12888666	0.29819
NM_000153.4(GALC):c.328+19T>A	rs74337989	0.12002
NM_000153.4(GALC):c.753-59C>T	rs17687364	0.11436
NM_000153.4(GALC):c.196-70G>A	rs74689143	0.11432
NM_000153.4(GALC):c.583-56G>A	rs79515863	0.11428
NM_000153.4(GALC):c.582+99C>T	rs17798011	0.11427
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)	rs34362748	0.11424
NM_000153.4(GALC):c.621+24T>C	rs45568734	0.11420
NM_000153.4(GALC):c.1161+38T>C	rs17687109	0.11416
NM_000153.4(GALC):c.621+63T>A	rs17797987	0.11416
NM_000153.4(GALC):c.621+98T>C	rs17797981	0.11415
NM_000153.4(GALC):c.329-35G>A	rs77466023	0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=)	rs112992946	0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)	rs111887056	0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=)	rs111976362	0.11287
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)	rs1805078	0.03877
NM_000153.4(GALC):c.330C>T (p.Asp110=)	rs11552556	0.03162
NM_000153.4(GALC):c.1162-4del	rs11300320
NM_000153.4(GALC):c.583-108G>T	rs17797993

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.