ClinVar Miner

List of variants in gene GALC reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.1489+3G>A rs186664912 0.00124
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535 0.00015
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.82G>A (p.Ala28Thr) rs776663863 0.00011
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.-63C>G rs1055562642 0.00004
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103 0.00003
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689 0.00003
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) rs771051919 0.00002
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.583-4G>T rs751820306 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.108G>A (p.Leu36=) rs923261706 0.00001
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr) rs569569879 0.00001
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro) rs1414778573 0.00001
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser) rs759122249 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.752+3A>G rs1567000413 0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724 0.00001
NM_000153.4(GALC):c.949T>A (p.Leu317Met) rs766071179 0.00001
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1161+9T>C rs1885891419
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr) rs557778528
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu) rs1313792705
NM_000153.4(GALC):c.1490-7T>A rs1885047183
NM_000153.4(GALC):c.1490-8C>G rs1362723313
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu) rs1289015582
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.516C>T (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.597G>T (p.Arg199Ser) rs1886780825
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.65G>C (p.Gly22Ala) rs372285275
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.909-3del rs1212915595

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.