ClinVar Miner

List of variants studied for Amish infantile epilepsy syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_001363847.1(ST3GAL5):c.-102G>C rs886056395
NM_001363847.1(ST3GAL5):c.-91G>A rs879798501
NM_003896.3(ST3GAL5):c.-140C>A rs28364795
NM_003896.3(ST3GAL5):c.-141T>C rs28364794
NM_003896.4(ST3GAL5):c.*115C>T rs193077813
NM_003896.4(ST3GAL5):c.*140A>T rs531229046
NM_003896.4(ST3GAL5):c.*140del rs550737011
NM_003896.4(ST3GAL5):c.*323C>G rs886056390
NM_003896.4(ST3GAL5):c.*355G>A rs573408903
NM_003896.4(ST3GAL5):c.*363A>C rs886056389
NM_003896.4(ST3GAL5):c.*415T>C rs112372963
NM_003896.4(ST3GAL5):c.*455G>A rs886056388
NM_003896.4(ST3GAL5):c.*482G>A rs115544178
NM_003896.4(ST3GAL5):c.*594G>A rs116456890
NM_003896.4(ST3GAL5):c.*607C>T rs535114385
NM_003896.4(ST3GAL5):c.*609G>C rs886056387
NM_003896.4(ST3GAL5):c.*678C>T rs188807604
NM_003896.4(ST3GAL5):c.*69A>G rs886056391
NM_003896.4(ST3GAL5):c.*944C>T rs761892496
NM_003896.4(ST3GAL5):c.*950G>A rs886056386
NM_003896.4(ST3GAL5):c.*976G>T rs775357214
NM_003896.4(ST3GAL5):c.-53G>A rs886056394
NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile) rs145738225
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=) rs149801673
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386
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.556C>T (p.His186Tyr) rs886056393
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615
NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=) rs530496667
NM_003896.4(ST3GAL5):c.861A>T (p.Val287=) rs886056392

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