ClinVar Miner

List of variants in gene GALT reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983 0.00101
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) rs780064274 0.00021
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_000155.4(GALT):c.1059+11A>G rs886042405 0.00002
NM_000155.4(GALT):c.268G>C (p.Asp90His) rs201330799 0.00002
NM_000155.4(GALT):c.507+17C>T rs747136664 0.00002
NM_000155.4(GALT):c.328+7T>C rs774350978 0.00001
NM_000155.4(GALT):c.329-19T>C rs886042082 0.00001
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682 0.00001
NM_000155.4(GALT):c.387G>A (p.Met129Ile) rs780621729 0.00001
NM_000155.4(GALT):c.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.508-12C>G rs727503947 0.00001
NM_000155.4(GALT):c.539G>A (p.Cys180Tyr) rs111033844 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734 0.00001
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser) rs111033755 0.00001
NM_000155.4(GALT):c.787C>T (p.Arg263Trp) rs1448701207 0.00001
NM_000155.4(GALT):c.820+4A>C rs398123186 0.00001
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304 0.00001
NM_000155.4(GALT):c.875C>T (p.Thr292Met) rs369227288 0.00001
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000155.4(GALT):c.1006A>G (p.Met336Val) rs111033810
NM_000155.4(GALT):c.1027G>A (p.Ala343Thr)
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile) rs775317639
NM_000155.4(GALT):c.1081C>T (p.Leu361Phe) rs886042069
NM_000155.4(GALT):c.1094A>G (p.His365Arg) rs1821228599
NM_000155.4(GALT):c.275C>A (p.Thr92Asn) rs1554709207
NM_000155.4(GALT):c.277T>A (p.Phe93Ile) rs886042059
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.328+33G>C rs767197888
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.341A>C (p.His114Pro) rs111033678
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
NM_000155.4(GALT):c.377+17C>T rs188599777
NM_000155.4(GALT):c.377+3A>G rs2132342779
NM_000155.4(GALT):c.377+7A>C rs376026879
NM_000155.4(GALT):c.377+7A>G rs376026879
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.406G>T (p.Asp136Tyr) rs794727699
NM_000155.4(GALT):c.449TTG[1] (p.Val151del) rs886043735
NM_000155.4(GALT):c.507+5G>A rs886043775
NM_000155.4(GALT):c.519C>G (p.Asn173Lys)
NM_000155.4(GALT):c.520A>C (p.Lys174Gln) rs1564101431
NM_000155.4(GALT):c.55G>C (p.Ala19Pro)
NM_000155.4(GALT):c.562C>A (p.Gln188Lys) rs398123182
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.605A>C (p.Glu202Ala) rs886042062
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.683G>C (p.Arg228Thr) rs373048062
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.739G>C (p.Ala247Pro)
NM_000155.4(GALT):c.74G>C (p.Arg25Pro) rs886042099
NM_000155.4(GALT):c.779A>T (p.His260Leu)
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup) rs1554709431
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.817G>C (p.Asp273His) rs886042071
NM_000155.4(GALT):c.820+16A>C rs1414791300
NM_000155.4(GALT):c.820+26G>A rs886042077
NM_000155.4(GALT):c.821-11T>C rs2132345329
NM_000155.4(GALT):c.823C>G (p.Leu275Val) rs796051967
NM_000155.4(GALT):c.83-3C>G rs794727235
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.864C>A (p.Asn288Lys) rs372134800
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.902A>G (p.His301Arg) rs886042065
NM_000155.4(GALT):c.907G>T (p.Ala303Ser)
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643

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.