List of variants in gene GALC reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 45

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.1834+5C>G	rs448805	0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)	rs421262	0.95462
NM_000153.4(GALC):c.196-43C>T	rs2289511	0.59150
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.1350C>T (p.Ser450=)	rs398076	0.39907
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.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.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.397T>C (p.Leu133=)	rs56194647	0.02565
NM_000153.4(GALC):c.1302C>T (p.Ser434=)	rs3213918	0.00674
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)	rs34134328	0.00483
NM_000153.4(GALC):c.-66G>T	rs146439771	0.00434
NM_000153.4(GALC):c.1006G>A (p.Val336Met)	rs185073540	0.00368
NM_000153.4(GALC):c.96G>T (p.Leu32=)	rs113719127	0.00324
NM_000153.4(GALC):c.1236T>A (p.Val412=)	rs112531377	0.00321
NM_000153.4(GALC):c.1670+19A>T	rs141839955	0.00298
NM_000153.4(GALC):c.-463C>T	rs181956126	0.00254
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)	rs190921137	0.00248
NM_000153.4(GALC):c.-318T>C	rs556647825	0.00210
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)	rs199967869	0.00107
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)	rs146286491	0.00019
NM_000153.4(GALC):c.708C>T (p.Ser236=)	rs773666802	0.00017
NM_000153.4(GALC):c.60C>T (p.Ala20=)	rs188488238	0.00013
NM_000153.4(GALC):c.1803A>G (p.Ala601=)	rs372465848	0.00009
NM_000153.4(GALC):c.18C>G (p.Leu6=)	rs886038260	0.00006
NM_000153.4(GALC):c.723C>T (p.Ala241=)	rs778552414	0.00003
NM_000153.4(GALC):c.1947T>C (p.Ser649=)	rs924881775	0.00001
NM_000153.4(GALC):c.443-12T>G	rs886038261	0.00001
NM_000153.4(GALC):c.443-30C>T	rs886038262	0.00001
NM_000153.4(GALC):c.-80_-75delATCAGC	rs564526560
NM_000153.4(GALC):c.1162-4del	rs11300320
NM_000153.4(GALC):c.1758T>C (p.Gly586=)	rs746189262
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)	rs373587692
NM_001201402.2(GALC):c.-120G>A
NM_001201402.2(GALC):c.117+142A>G
NM_001201402.2(GALC):c.81A>G (p.Lys27=)

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.