ClinVar Miner

List of variants in gene SYNE1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 21
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HGVS dbSNP
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744
NM_182961.4(SYNE1):c.12225+4G>A rs770448083
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His) rs148248006
NM_182961.4(SYNE1):c.14223del (p.Ser4742fs) rs1554468335
NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter) rs1064797331
NM_182961.4(SYNE1):c.18574-4G>C rs767063118
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=) rs375111758
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675
NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) rs1064797332
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=) rs369163343
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421

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