ClinVar Miner

List of variants in gene combination STX16, STX16-NPEPL1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001001433.3(STX16):c.*114C>T rs191638951 0.00054
NM_001001433.3(STX16):c.*1488A>C rs565168524 0.00050
NM_001001433.3(STX16):c.*2137C>T rs886056861 0.00022
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_001001433.3(STX16):c.*2152G>A rs1027698811 0.00011
NM_001001433.3(STX16):c.*2016G>T rs779563360 0.00010
NM_001001433.3(STX16):c.*648A>C rs980469101 0.00010
NM_001001433.3(STX16):c.*2095C>T rs577869699 0.00009
NM_001001433.3(STX16):c.*173C>G rs765639298 0.00006
NM_001001433.3(STX16):c.*2499C>T rs886056866 0.00006
NM_001001433.3(STX16):c.*3093A>G rs886056869 0.00006
NM_001001433.3(STX16):c.*952C>A rs886056854 0.00006
NM_001001433.3(STX16):c.*2276G>C rs886086537 0.00005
NM_001001433.3(STX16):c.*1160G>A rs886056855 0.00004
NM_001001433.3(STX16):c.*1378A>T rs750137163 0.00004
NM_001001433.3(STX16):c.*2138G>A rs535827417 0.00004
NM_001001433.3(STX16):c.*441C>G rs886056852 0.00004
NM_001001433.3(STX16):c.-409G>A rs886056844 0.00004
NM_001001433.3(STX16):c.*1746C>T rs886056858 0.00003
NM_001001433.3(STX16):c.*1898A>G rs886056860 0.00003
NM_001001433.3(STX16):c.*2475T>C rs886056864 0.00003
NM_001001433.3(STX16):c.-693G>A rs149351460 0.00003
NM_001001433.3(STX16):c.*1312A>T rs757085474 0.00002
NM_001001433.3(STX16):c.*1896G>A rs543577961 0.00002
NM_001001433.3(STX16):c.*2568C>T rs536513007 0.00002
NM_001001433.3(STX16):c.-621G>A rs567647430 0.00002
NM_001001433.3(STX16):c.*1195A>G rs1488875431 0.00001
NM_001001433.3(STX16):c.*1547C>G rs532426531 0.00001
NM_001001433.3(STX16):c.*217G>A rs145140409 0.00001
NM_001001433.3(STX16):c.*2558T>C rs1276361785 0.00001
NM_001001433.3(STX16):c.*2896A>G rs886056868 0.00001
NM_001001433.3(STX16):c.*558T>C rs1192979707 0.00001
NM_001001433.3(STX16):c.-494G>A rs1018502247 0.00001
NM_001001433.3(STX16):c.-707G>A rs886056841 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) rs756954719 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_001001433.3(STX16):c.*1156G>C rs1032502684
NM_001001433.3(STX16):c.*1203T>C rs886056856
NM_001001433.3(STX16):c.*1232A>G rs886056857
NM_001001433.3(STX16):c.*1565C>G rs2084170375
NM_001001433.3(STX16):c.*1676T>A rs893623188
NM_001001433.3(STX16):c.*1764C>T rs886056859
NM_001001433.3(STX16):c.*1957T>C rs2084183470
NM_001001433.3(STX16):c.*2312G>A rs886056862
NM_001001433.3(STX16):c.*2347_*2348insAAA rs761666161
NM_001001433.3(STX16):c.*2348del rs886056863
NM_001001433.3(STX16):c.*2363_*2366dup rs10695175
NM_001001433.3(STX16):c.*2364_*2366dup rs10695175
NM_001001433.3(STX16):c.*2377G>T rs559654103
NM_001001433.3(STX16):c.*2496del rs886056865
NM_001001433.3(STX16):c.*2555C>G rs2084203495
NM_001001433.3(STX16):c.*2574T>C rs528651545
NM_001001433.3(STX16):c.*2594T>C rs886056867
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*3053C>T rs769976417
NM_001001433.3(STX16):c.*3092A>C rs2084217748
NM_001001433.3(STX16):c.*436G>C rs886056851
NM_001001433.3(STX16):c.-377G>A rs886056845
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) rs116490884
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) rs1031420787
NM_001001433.3(STX16):c.875C>T (p.Ala292Val) rs2084118222
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) rs886056847
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848

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