ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic

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Total variants: 39
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HGVS dbSNP
NM_033071.3(SYNE1):c.10629+1G>C
NM_033071.3(SYNE1):c.11131A>T (p.Lys3711Ter) rs1057521719
NM_033071.3(SYNE1):c.12847C>T (p.Gln4283Ter) rs886044588
NM_033071.3(SYNE1):c.13177C>T (p.Gln4393Ter) rs1554471992
NM_033071.3(SYNE1):c.14010del (p.Ser4671fs) rs1554468335
NM_033071.3(SYNE1):c.14955dup (p.Ala4986fs) rs1554455233
NM_033071.3(SYNE1):c.15134T>A (p.Leu5045Ter) rs1452163185
NM_033071.3(SYNE1):c.16177-2A>G
NM_033071.3(SYNE1):c.16954C>T (p.Gln5652Ter) rs886044380
NM_033071.3(SYNE1):c.17469+1G>A rs1064796579
NM_033071.3(SYNE1):c.17704C>T (p.Gln5902Ter) rs1064797331
NM_033071.3(SYNE1):c.19047+2T>C
NM_033071.3(SYNE1):c.1954-2A>G rs1554753528
NM_033071.3(SYNE1):c.19686C>G (p.Tyr6562Ter) rs1057520134
NM_033071.3(SYNE1):c.19793dup (p.Ala6599fs) rs1385280819
NM_033071.3(SYNE1):c.20935C>T (p.Arg6979Ter) rs763325410
NM_033071.3(SYNE1):c.2175del (p.Thr726fs) rs886044155
NM_033071.3(SYNE1):c.4520T>A (p.Ile1507Asn) rs746438011
NM_033071.3(SYNE1):c.501_502CT[1] (p.Ser167_Ser168insTer) rs1554829141
NM_033071.3(SYNE1):c.7578del (p.Phe2527fs) rs1064797332
NM_033071.3(SYNE1):c.8556T>G (p.Tyr2852Ter) rs1057521813
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769
NM_182961.4(SYNE1):c.13325del (p.Gly4442fs) rs1064794555
NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter) rs773028680
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.15897del (p.Met5300fs) rs1057518603
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter) rs570916267
NM_182961.4(SYNE1):c.24977-1777del rs1554414122
NM_182961.4(SYNE1):c.310-489G>T rs1564555089
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.4975_4976+8del
NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter) rs1564400585

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