List of variants in gene combination C17orf107, CHRNE reported 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
		ClinVar version:

Total variants: 61

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	rs144169073	0.00061
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)	rs146931108	0.00042
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00003
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	rs776927709	0.00002
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)	rs28929768	0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00002
NM_000080.4(CHRNE):c.803-2A>G	rs1320610655	0.00002
NM_000080.4(CHRNE):c.-96C>T	rs748144899	0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)	rs121909512	0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	rs121909514	0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	rs758687208	0.00001
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	rs977512223
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)	rs1278514080
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
NM_000080.4(CHRNE):c.345-2A>G
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)	rs894382905
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del)	rs2151098283
NM_000080.4(CHRNE):c.46+2del
NM_000080.4(CHRNE):c.47-1G>A
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	rs121909516
NM_000080.4(CHRNE):c.501-10_504dup	rs768552387
NM_000080.4(CHRNE):c.501-16G>A	rs879255563
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)	rs779816027
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)	rs1969972830
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)	rs1597619440
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)	rs1567638676
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	rs1555546765
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs)	rs756675414
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)	rs370019023
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983
NM_000080.4(CHRNE):c.918-1G>A	rs1407243713
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465
NM_001145536.2(C17orf107):c.368_378del

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