ClinVar Miner

List of variants in gene SYNE2 reported as likely benign by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr) rs144108695 0.00132
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=) rs143686889 0.00101
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg) rs546054742 0.00036
NM_182914.3(SYNE2):c.3639-6A>G rs369878032 0.00026
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys) rs150105416 0.00011
NM_182914.3(SYNE2):c.5751C>T (p.Leu1917=) rs373040509 0.00008
NM_182914.3(SYNE2):c.10332G>A (p.Ser3444=) rs1200933436 0.00001
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.15290TTC[1] (p.Leu5098del) rs368230785
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.6330G>A (p.Pro2110=) rs779101206

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