ClinVar Miner

List of variants reported as pathogenic for Deficiency of galactokinase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302 0.00010
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter) rs111033608 0.00009
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
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_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000154.2(GALK1):c.1059del (p.Thr354fs) rs2061564118 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
NC_000017.10:g.(?_73753076)_(73754632_?)del
NC_000017.10:g.(?_73754127)_(73754690_?)del
NC_000017.10:g.(?_73754127)_(73761239_?)del
NC_000017.10:g.(?_73758775)_(73761239_?)del
NC_000017.10:g.(?_73759968)_(73761239_?)del
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs) rs2061563475
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
NM_000154.2(GALK1):c.1107+1G>A rs2143585254
NM_000154.2(GALK1):c.162dup (p.Met55fs) rs2143608028
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter) rs104894577
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter) rs2143605190
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter) rs2061599016
NM_000154.2(GALK1):c.327dup (p.Val110fs)
NM_000154.2(GALK1):c.364del (p.Leu122fs) rs2061596711
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter) rs775843885
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter) rs767799179
NM_000154.2(GALK1):c.530del (p.Phe177fs) rs2061594762
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
NM_000154.2(GALK1):c.678del (p.Asn226fs) rs1568395061
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter) rs2143608501
NM_000154.2(GALK1):c.6del (p.Ala3fs) rs2143608720
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs) rs773559496
NM_000154.2(GALK1):c.761del (p.Ser254fs) rs1599335144
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs) rs2143601360
NM_000154.2(GALK1):c.781del (p.Glu261fs)
NM_000154.2(GALK1):c.793+2T>C
NM_000154.2(GALK1):c.793+2T>G
NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)

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.