ClinVar Miner

List of variants in gene SYNE1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter) rs761433022 0.00001
NM_182961.4(SYNE1):c.11205del (p.Ile3735fs) rs2154044401
NM_182961.4(SYNE1):c.14813T>A (p.Leu4938Ter) rs2153969039
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.99del (p.Phe33fs)

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