ClinVar Miner

List of variants in gene GALNS reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1242+149G>A rs747232 0.38901
NM_000512.5(GALNS):c.633+125A>G rs2269334 0.38828
NM_000512.5(GALNS):c.759-90A>T rs11076721 0.38707
NM_000512.5(GALNS):c.633+138C>A rs2269335 0.37886
NM_000512.5(GALNS):c.1003-170T>C rs3743546 0.34189
NM_000512.5(GALNS):c.633+91T>C rs2269333 0.34085
NM_000512.5(GALNS):c.1139+97G>C rs3859024 0.33633
NM_000512.5(GALNS):c.423-627T>C rs7205379 0.32533
NM_000512.5(GALNS):c.567-105T>C rs12444543 0.28239
NM_000512.5(GALNS):c.566+234G>T rs3784884 0.28028
NM_000512.5(GALNS):c.566+134G>A rs3784883 0.25805
NM_000512.5(GALNS):c.567-145A>G rs11076722 0.25062
NM_000512.5(GALNS):c.567-148C>A rs11076723 0.25040
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_000512.5(GALNS):c.423-901T>C rs897958 0.23810
NM_000512.5(GALNS):c.244+86G>A rs71395332 0.20954
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_000512.5(GALNS):c.899-277G>A rs8050636 0.13495
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000512.5(GALNS):c.634-130T>C rs375743510 0.13327
NM_000512.5(GALNS):c.1243-309A>G rs55789563 0.12428
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.245-65G>A rs112246973 0.08235
NM_000512.5(GALNS):c.1242+97G>T rs73251097 0.06662
NM_000512.5(GALNS):c.320-342G>A rs78178561 0.05788
NM_000512.5(GALNS):c.423-253G>A rs117624874 0.05743
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000512.5(GALNS):c.1242+36C>T rs116993143 0.05164
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_000512.5(GALNS):c.759-84G>A rs75914102 0.05070
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_000512.5(GALNS):c.121-208A>G rs28493584 0.04733
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000512.5(GALNS):c.566+322G>T rs9923565 0.04494
NM_000512.5(GALNS):c.898+228_898+229del rs140419131 0.04439
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000512.5(GALNS):c.1140-85C>T rs73251099 0.03871
NM_000512.5(GALNS):c.1003-127G>A rs74035850 0.03865
NM_000512.5(GALNS):c.1140-163A>G rs76578155 0.03856
NM_000512.5(GALNS):c.1140-161C>A rs75205147 0.03828
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000512.5(GALNS):c.1364+256T>C rs144243016 0.03668
NM_000512.5(GALNS):c.1482+281C>T rs115492020 0.03314
NM_000512.5(GALNS):c.422+78A>G rs116722990 0.03303
NM_000512.5(GALNS):c.422+328G>A rs115776613 0.03104
NM_000512.5(GALNS):c.634-125C>T rs113435087 0.02951
NM_000512.5(GALNS):c.899-276G>A rs75267235 0.02917
NM_000512.5(GALNS):c.898+68G>A rs7187783 0.02903
NM_000512.5(GALNS):c.898+208G>A rs7187565 0.02902
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000512.5(GALNS):c.422+273A>G rs75750032 0.01860
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.566+30C>T rs200659210 0.00141
NM_000512.5(GALNS):c.633+22T>C rs201579340 0.00045
GRCh37/hg19 16q24.3(chr16:88891364-88902183)x1
NM_000512.5(GALNS):c.1140-210_1140-188dup rs796942675
NM_000512.5(GALNS):c.1482+599C>T
NM_000512.5(GALNS):c.422+117C>A rs8054994
NM_000512.5(GALNS):c.567-256C>G rs112837743
NM_000512.5(GALNS):c.634-134A>G rs112424203
NM_000512.5(GALNS):c.758+135G>A rs79939637

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.