ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921
NM_182961.4(SYNE1):c.14223del (p.Ser4742fs) rs1554468335
NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter) rs1452163185
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.20641del (p.Leu6881fs)
NM_182961.4(SYNE1):c.4619del (p.Ala1540fs)
NM_182961.4(SYNE1):c.5871del (p.Glu1958fs) rs771857618
NM_182961.4(SYNE1):c.7557del (p.Phe2520fs) rs1064797332

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