ClinVar Miner

List of variants reported as uncertain significance for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000155.3(GALT):c.-121C>G rs368046870 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.197C>T (p.Pro66Leu) rs111033656 0.00004
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847 0.00002
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000155.4(GALT):c.377+2dup rs763662108 0.00001
NM_000155.4(GALT):c.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.628A>G (p.Lys210Glu) rs896091797 0.00001
NM_000155.4(GALT):c.773G>A (p.Arg258His) rs773766027 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
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.12:g.34646581A>C
NM_000155.4(GALT):c.1008G>A (p.Met336Ile) rs770770917
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn)
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu) rs1821228380
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter) rs111033823
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.173A>T (p.Glu58Val)
NM_000155.4(GALT):c.194T>C (p.Val65Ala)
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr) rs1469998825
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.252G>A (p.Glu84=)
NM_000155.4(GALT):c.253-6C>A rs753450355
NM_000155.4(GALT):c.253-6C>G
NM_000155.4(GALT):c.295T>A (p.Phe99Ile) rs1223049216
NM_000155.4(GALT):c.298C>G (p.Pro100Ala)
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.31C>G (p.Arg11Gly)
NM_000155.4(GALT):c.328+33G>A rs767197888
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
NM_000155.4(GALT):c.346C>G (p.Leu116Val) rs1554709252
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
NM_000155.4(GALT):c.40G>A (p.Ala14Thr)
NM_000155.4(GALT):c.419C>T (p.Pro140Leu) rs1821147228
NM_000155.4(GALT):c.430G>C (p.Val144Leu) rs2132343177
NM_000155.4(GALT):c.457G>A (p.Ala153Thr)
NM_000155.4(GALT):c.502_504del (p.Val168del) rs1219976432
NM_000155.4(GALT):c.507+5G>A rs886043775
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.529A>G (p.Met177Val)
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr) rs367543259
NM_000155.4(GALT):c.550C>T (p.His184Tyr) rs111033716
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)
NM_000155.4(GALT):c.565-13T>A rs2132344016
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.745T>C (p.Trp249Arg) rs111033757
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.797A>G (p.Glu266Gly) rs1821178890
NM_000155.4(GALT):c.820+16A>C rs1414791300
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.863A>G (p.Asn288Ser) rs1821184031
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.4(GALT):c.931G>T (p.Ala311Ser)
NM_000155.4(GALT):c.950A>C (p.Gln317Pro)
NM_000155.4(GALT):c.976C>T (p.Leu326Phe) rs1821199784

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.