ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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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.12528+1G>A rs1012514808 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter) rs1193193335 0.00001
NM_182961.4(SYNE1):c.6723+1G>C rs779302145 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C rs2154000325
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs) rs2096322248
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs) rs1064794555
NM_182961.4(SYNE1):c.15837_15917+69del rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G rs2153903647
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
NM_182961.4(SYNE1):c.18208-1G>A rs2153725036
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs) rs2083582255
NM_182961.4(SYNE1):c.22590-1G>A rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23790+1G>A rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.2568+1G>A rs2154261629
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter) rs2098603169
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.4310+1G>A
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
NM_182961.4(SYNE1):c.67+2T>A rs762743107
NM_182961.4(SYNE1):c.888+2T>A rs754518742
NM_182961.4(SYNE1):c.888+2T>C

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