ClinVar Miner

List of variants in gene combination C17orf107, CHRNE reported by Athena Diagnostics Inc

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.7A>G (p.Arg3Gly) rs201118080 0.00001
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183

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