List of variants in gene CHRNE reported as likely pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)	rs1268475945	0.00003
NM_000080.4(CHRNE):c.1032+1G>A	rs1458613529
NM_000080.4(CHRNE):c.1220-1G>C	rs373710822
NM_000080.4(CHRNE):c.1220-6_1227del	rs1567635954
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	rs769945146
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)	rs1969834618
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)	rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	rs1597612665
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)	rs56377005
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	rs121909515

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