ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic by Invitae

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Total variants: 9
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NM_033071.3(SYNE1):c.16177-2A>C rs759460806
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)
NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter) rs910956017
NM_033071.3(SYNE1):c.24008C>G (p.Ser8003Ter)
NM_033071.3(SYNE1):c.4534G>T (p.Glu1512Ter)
NM_033071.3(SYNE1):c.572T>A (p.Leu191Ter)
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227

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