ClinVar Miner

List of variants in gene STX16, STX16-NPEPL1 studied for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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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.*114C>T rs191638951 0.00054
NM_001001433.3(STX16):c.*1488A>C rs565168524 0.00050
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.442C>T (p.Arg148Trp) rs141068956 0.00031
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.*2137C>T rs886056861 0.00022
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_001001433.3(STX16):c.360T>C (p.His120=) rs148962992 0.00018
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00016
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
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.*952C>A rs886056854 0.00009
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) rs202102691 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.-25A>C rs368579447 0.00006
NM_001001433.3(STX16):c.*17G>A rs766728803 0.00005
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.-421C>G rs557592494 0.00004
NM_001001433.3(STX16):c.394-7C>T rs533111939 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.*539G>A rs571571425 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.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 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.*1747G>C rs140662326
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.*2377G>T rs559654103
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.*2627G>C rs76626612
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*2962C>T rs192204838
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.-464G>A rs41296203
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.145-2060_556+343del
NM_001001433.3(STX16):c.393+557_792+364del
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) rs116490884
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)
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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