ClinVar Miner

List of variants in gene GALNS reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*140C>A
NM_000512.5(GALNS):c.*144T>C
NM_000512.5(GALNS):c.*145C>T rs539285988
NM_000512.5(GALNS):c.*186C>G
NM_000512.5(GALNS):c.*197C>T
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.*20C>G rs886052454
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*261T>G
NM_000512.5(GALNS):c.*263T>C rs886052451
NM_000512.5(GALNS):c.*270T>C
NM_000512.5(GALNS):c.*287T>C rs776880179
NM_000512.5(GALNS):c.*29A>C
NM_000512.5(GALNS):c.*387T>G
NM_000512.5(GALNS):c.*3C>G rs77826920
NM_000512.5(GALNS):c.*503T>G rs573836350
NM_000512.5(GALNS):c.*520C>A
NM_000512.5(GALNS):c.*523G>A
NM_000512.5(GALNS):c.*573A>G rs551511278
NM_000512.5(GALNS):c.*610G>T rs755706847
NM_000512.5(GALNS):c.*639T>G
NM_000512.5(GALNS):c.*656T>C
NM_000512.5(GALNS):c.*70T>C
NM_000512.5(GALNS):c.*86C>T
NM_000512.5(GALNS):c.*95T>A rs536448022
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898
NM_000512.5(GALNS):c.1003-10T>C rs753249472
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1140-15C>T
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.121-4G>A rs200008960
NM_000512.5(GALNS):c.121-7C>G
NM_000512.5(GALNS):c.1242+3A>G rs377067312
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
NM_000512.5(GALNS):c.1482+4A>G
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
NM_000512.5(GALNS):c.243A>G (p.Pro81=) rs759476855
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.566+6G>A
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881
NM_000512.5(GALNS):c.898+4A>G
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
NM_000512.5(GALNS):c.993T>C (p.Thr331=)

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.