ClinVar Miner

List of variants reported as uncertain significance for Amish infantile epilepsy syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NC_000002.11:g.(?_86067247)_(86116048_?)dup
NC_000002.12:g.(?_85888804)_(85888925_?)dup
NM_003896.4(ST3GAL5):c.1008+6T>G
NM_003896.4(ST3GAL5):c.1012G>A (p.Val338Ile)
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354
NM_003896.4(ST3GAL5):c.1076C>T (p.Ala359Val) rs201425015
NM_003896.4(ST3GAL5):c.1079G>A (p.Gly360Asp) rs1313087028
NM_003896.4(ST3GAL5):c.1093C>G (p.Leu365Val) rs775647232
NM_003896.4(ST3GAL5):c.1126G>A (p.Asp376Asn) rs147305893
NM_003896.4(ST3GAL5):c.1126G>C (p.Asp376His) rs147305893
NM_003896.4(ST3GAL5):c.1129A>G (p.Ser377Gly) rs748173859
NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr) rs755800174
NM_003896.4(ST3GAL5):c.1164G>A (p.Met388Ile)
NM_003896.4(ST3GAL5):c.1178C>T (p.Thr393Met)
NM_003896.4(ST3GAL5):c.1244A>T (p.Asp415Val)
NM_003896.4(ST3GAL5):c.1246C>T (p.Arg416Cys)
NM_003896.4(ST3GAL5):c.1247G>A (p.Arg416His) rs200683924
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924
NM_003896.4(ST3GAL5):c.152C>G (p.Thr51Ser)
NM_003896.4(ST3GAL5):c.16G>A (p.Ala6Thr)
NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala)
NM_003896.4(ST3GAL5):c.247C>T (p.Leu83Phe) rs146955794
NM_003896.4(ST3GAL5):c.287_289del (p.Lys96del)
NM_003896.4(ST3GAL5):c.296A>G (p.Tyr99Cys)
NM_003896.4(ST3GAL5):c.311A>T (p.His104Leu)
NM_003896.4(ST3GAL5):c.343G>A (p.Val115Ile) rs768713355
NM_003896.4(ST3GAL5):c.344T>A (p.Val115Asp) rs1370274550
NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys)
NM_003896.4(ST3GAL5):c.361C>T (p.Arg121Cys)
NM_003896.4(ST3GAL5):c.362G>A (p.Arg121His) rs144154879
NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met) rs377046345
NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu) rs377046345
NM_003896.4(ST3GAL5):c.418G>A (p.Asp140Asn)
NM_003896.4(ST3GAL5):c.488G>A (p.Gly163Glu) rs1573596219
NM_003896.4(ST3GAL5):c.494G>A (p.Arg165Gln)
NM_003896.4(ST3GAL5):c.4C>T (p.Arg2Trp)
NM_003896.4(ST3GAL5):c.518C>T (p.Thr173Ile) rs1558653854
NM_003896.4(ST3GAL5):c.544G>A (p.Asp182Asn) rs373571836
NM_003896.4(ST3GAL5):c.561G>C (p.Leu187Phe)
NM_003896.4(ST3GAL5):c.581G>A (p.Arg194His)
NM_003896.4(ST3GAL5):c.616G>A (p.Gly206Arg) rs755430767
NM_003896.4(ST3GAL5):c.703G>A (p.Gly235Arg)
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser)
NM_003896.4(ST3GAL5):c.715A>G (p.Thr239Ala)
NM_003896.4(ST3GAL5):c.738G>C (p.Glu246Asp) rs755264272
NM_003896.4(ST3GAL5):c.746C>T (p.Pro249Leu)
NM_003896.4(ST3GAL5):c.762A>C (p.Glu254Asp) rs1191405507
NM_003896.4(ST3GAL5):c.83-7T>G rs1558681261
NM_003896.4(ST3GAL5):c.831G>A (p.Met277Ile) rs751569436
NM_003896.4(ST3GAL5):c.856T>A (p.Trp286Arg) rs570665646
NM_003896.4(ST3GAL5):c.863G>A (p.Arg288Gln) rs761548748
NM_003896.4(ST3GAL5):c.923T>C (p.Ile308Thr)
NM_003896.4(ST3GAL5):c.963C>G (p.Ile321Met)
NM_003896.4(ST3GAL5):c.973T>G (p.Ser325Ala)
NM_003896.4(ST3GAL5):c.984G>T (p.Gln328His) rs1573580842

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