ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_182961.4(SYNE1):c.17682+1G>A rs1064796579 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter) rs773028680 0.00001
NM_182961.4(SYNE1):c.1730-2A>C rs374286713 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.310-489G>T rs1564555089 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.5871del (p.Glu1958fs) rs771857618 0.00001
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs) rs1220584620 0.00001
NM_001347702.2(SYNE1):c.1455del (p.Glu486fs) rs1554414122
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.10486G>T (p.Glu3496Ter)
NM_182961.4(SYNE1):c.10549C>T (p.Gln3517Ter)
NM_182961.4(SYNE1):c.11138_11145del (p.Ser3713fs) rs1590884711
NM_182961.4(SYNE1):c.11176A>T (p.Lys3726Ter) rs1057521719
NM_182961.4(SYNE1):c.11662C>T (p.Gln3888Ter) rs1590820792
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter) rs886044588
NM_182961.4(SYNE1):c.13325del (p.Gly4442fs) rs1064794555
NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter) rs1554471992
NM_182961.4(SYNE1):c.13476del (p.Val4493fs) rs1590230520
NM_182961.4(SYNE1):c.13666G>T (p.Glu4556Ter) rs769284492
NM_182961.4(SYNE1):c.1418dup (p.Asn473fs) rs2154279887
NM_182961.4(SYNE1):c.14211dup (p.Glu4738fs) rs748695956
NM_182961.4(SYNE1):c.14223del (p.Ser4742fs) rs1554468335
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs) rs1554455233
NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
NM_182961.4(SYNE1):c.15567del (p.Trp5189fs) rs1590102028
NM_182961.4(SYNE1):c.15897del (p.Met5300fs) rs1057518603
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.16710+2_16710+11del rs1589919815
NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter) rs1064797331
NM_182961.4(SYNE1):c.18733A>T (p.Lys6245Ter)
NM_182961.4(SYNE1):c.19582C>T (p.Gln6528Ter)
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20602C>T (p.Arg6868Ter) rs763818494
NM_182961.4(SYNE1):c.20641del (p.Leu6881fs) rs2083359401
NM_182961.4(SYNE1):c.2154del (p.Thr719fs) rs886044155
NM_182961.4(SYNE1):c.21659G>A (p.Trp7220Ter)
NM_182961.4(SYNE1):c.22044+1G>A rs1372915935
NM_182961.4(SYNE1):c.226-1G>A rs1594574182
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23346G>A (p.Trp7782Ter) rs2153180156
NM_182961.4(SYNE1):c.23346_23349delinsAATGAAT (p.Trp7782_Ala7783delinsTer) rs2067614941
NM_182961.4(SYNE1):c.2383C>T (p.Gln795Ter) rs2154265455
NM_182961.4(SYNE1):c.26006_26015del (p.Leu8669fs) rs943207232
NM_182961.4(SYNE1):c.2727+1G>T rs942550749
NM_182961.4(SYNE1):c.2752del (p.Trp918fs)
NM_182961.4(SYNE1):c.2795_2796insG (p.Phe932fs)
NM_182961.4(SYNE1):c.4310+1G>T
NM_182961.4(SYNE1):c.4619del (p.Ala1540fs) rs2098419549
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4981_4984del (p.Glu1661fs)
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.6051-1G>T
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6832G>T (p.Glu2278Ter)
NM_182961.4(SYNE1):c.7345del (p.Leu2449fs)
NM_182961.4(SYNE1):c.7494dup (p.Phe2499fs) rs1194460500
NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) rs1064797332
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter) rs1564400585

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