ClinVar Miner

List of variants in gene GALC reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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.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.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.330C>T (p.Asp110=) rs11552556 0.03162
NM_000153.4(GALC):c.1338+23T>C rs74076317 0.01816
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803 0.00224
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799 0.00006
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00004
NM_000153.4(GALC):c.118G>A (p.Gly40Ser) rs780050514 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) rs753623482 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.298G>A (p.Val100Met)
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.847A>G (p.Met283Val) rs2140001597

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.