ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_033071.3(SYNE1):c.1042G>T (p.Glu348Ter) rs1203553546
NM_033071.3(SYNE1):c.16208C>A (p.Ser5403Ter) rs797046024
NM_033071.3(SYNE1):c.22195G>T (p.Glu7399Ter) rs1554573328
NM_033071.3(SYNE1):c.22788dup (p.Leu7597Thrfs) rs1554553667
NM_033071.3(SYNE1):c.24865C>T (p.Gln8289Ter) rs797046025
NM_033071.3(SYNE1):c.503_504del (p.Ser168Terfs) rs1554829141
NM_033071.3(SYNE1):c.5182G>T (p.Glu1728Ter) rs1554676394
NM_033071.3(SYNE1):c.6898del (p.Glu2300Lysfs) rs797046026

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