ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000512.5(GALNS):c.*3C>G rs77826920
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1003-42C>T rs139088253
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269
NM_000512.5(GALNS):c.120+1532G>C rs34150867
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.244+19C>T rs35137494
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544
NM_000512.5(GALNS):c.566+10C>T rs77514811
NM_000512.5(GALNS):c.566+5T>C rs3743545
NM_000512.5(GALNS):c.567-3C>T
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889
NM_000512.5(GALNS):c.634-19G>A rs12934499
NM_000512.5(GALNS):c.634-20C>T rs17603837
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.759-67G>A
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749
NM_000512.5(GALNS):c.899-4C>G rs143793386
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622

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