ClinVar Miner

List of variants in gene combination CHRNE, LOC130060041 reported as uncertain significance by Natera, Inc.

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser) rs964034772 0.00008
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu) rs371919434 0.00005
NM_000080.4(CHRNE):c.1033-9C>A rs1055824191 0.00002
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu) rs753495337 0.00002
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=) rs907495464 0.00001
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser) rs998988224 0.00001
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr) rs780327519 0.00001
NM_000080.4(CHRNE):c.1049T>C (p.Leu350Pro) rs1969864400
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu) rs764744220
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu) rs1026988403
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476

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