ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_001001433.3(STX16):c.*183G>T rs1052642 0.10193
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_001001433.3(STX16):c.-350C>A rs41296205 0.04872
NM_001001433.2(STX16):c.-744T>C rs6026428 0.03911
NM_001001433.3(STX16):c.*1581G>C rs73302110 0.03645
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950 0.03442
NM_001001433.3(STX16):c.*2060T>C rs115404291 0.02468
NM_001001433.3(STX16):c.*70G>A rs114597931 0.02300
NM_001001433.3(STX16):c.*1997A>G rs78816069 0.02027
NM_001001433.3(STX16):c.*2080G>A rs111631847 0.01560
NM_001001433.3(STX16):c.*1899C>T rs138678203 0.01442
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310 0.01421
NM_001001433.3(STX16):c.*2543G>C rs75424783 0.01014
NM_001001433.3(STX16):c.*1863C>A rs141875151 0.00929
NM_001001433.3(STX16):c.557-7G>C rs41276952 0.00517
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00412
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00250
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00211
NM_001001433.3(STX16):c.*2293G>A rs185815575 0.00170
NM_001001433.3(STX16):c.*2885C>T rs188362833 0.00170
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
NM_001001433.3(STX16):c.-534C>G rs190719996 0.00128
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_001001433.3(STX16):c.-63T>C rs181473720 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_001001433.3(STX16):c.*1886T>C rs150647186 0.00070
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001001433.3(STX16):c.594C>T (p.Phe198=) rs146333716 0.00037
NM_001001433.3(STX16):c.-550G>A rs148071494 0.00034
NM_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001001433.3(STX16):c.-25A>C rs368579447 0.00006
NM_001001433.3(STX16):c.-421C>G rs557592494 0.00004
NM_001001433.3(STX16):c.394-7C>T rs533111939 0.00004
NM_001001433.3(STX16):c.*539G>A rs571571425 0.00001
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001001433.3(STX16):c.*1747G>C rs140662326
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.*3175_*3176del rs35295928
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524

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