ClinVar Miner

Variants in gene SYNE2 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 57
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp) rs143558316 0.00056
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys) rs143646847 0.00031
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe) rs201421128 0.00026
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg) rs201538331 0.00013
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg) rs148323208 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln) rs148791608 0.00011
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu) rs149546014 0.00004
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser) rs199566869 0.00004
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr) rs143784708 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val) rs761503203 0.00003
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile) rs538224852 0.00002
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr) rs761844853 0.00001
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln) rs372597797 0.00001
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His) rs200946949
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744

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