ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 5
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NM_033071.3(SYNE1):c.14010del (p.Ser4671Alafs) rs1554468335
NM_033071.3(SYNE1):c.17704C>T (p.Gln5902Ter) rs1064797331
NM_033071.3(SYNE1):c.7578delC (p.Phe2527Leufs) rs1064797332
NM_182961.3(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157

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