ClinVar Miner

List of variants studied for galactosemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00006
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_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.777G>A (p.Arg259=) rs111033761 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.611+1G>T rs982043960 0.00001
NM_000154.2(GALK1):c.793+1G>T rs767790909 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.329-2A>C rs111033667 0.00001
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409 0.00001
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro) rs1457875051 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_000154.2(GALK1):c.1067T>C (p.Leu356Pro)
NM_000154.2(GALK1):c.166-5_175del
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.381_400dup (p.Pro134fs)
NM_000154.2(GALK1):c.3G>T (p.Met1Ile)
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.710del (p.Pro237fs) rs773559496
NM_000154.2(GALK1):c.790del (p.Glu264fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.898dup (p.Tyr300fs)
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.286G>C (p.Asp96His)
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.368G>A (p.Arg123Gln) rs111033675
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>A
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_001008216.2(GALE):c.122-11_122-1del
NM_001008216.2(GALE):c.142_143del (p.Ser48fs)
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
NM_001008216.2(GALE):c.315_316del (p.Tyr105_Arg106delinsTer)
NM_001008216.2(GALE):c.351+1G>T rs1388106856
NM_001008216.2(GALE):c.517del (p.Gln173fs)
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro) rs121908045
NM_001008216.2(GALE):c.643-2A>C
NM_001008216.2(GALE):c.726_729del (p.Ile242fs)
NM_001008216.2(GALE):c.749del (p.Gly250fs) rs1570630665
NM_001008216.2(GALE):c.882C>A (p.Tyr294Ter)
NM_001008216.2(GALE):c.882C>G (p.Tyr294Ter)
NM_001008216.2(GALE):c.924C>G (p.Tyr308Ter)
NM_001008216.2(GALE):c.989_990dup (p.Glu331fs)

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.