List of variants in gene C17orf107, CHRNE studied for congenital myasthenic syndrome 4B

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.917+15C>G	rs12942540	0.16257
NM_000080.4(CHRNE):c.46+64G>A	rs12602789	0.08447
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.896T>C (p.Leu299Pro)	rs142735836	0.00014
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)	rs148370803	0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	rs201434993	0.00010
NM_000080.4(CHRNE):c.-95G>A	rs990457690	0.00003
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)	rs754001856	0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)	rs753756406	0.00002
NM_000080.4(CHRNE):c.-96C>T	rs748144899	0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)	rs1344336890	0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)	rs121909512	0.00001
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	rs762368691
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)	rs193919341
NM_000080.4(CHRNE):c.235-2A>G	rs1597622118
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile)	rs1970039895
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)	rs771950733
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	rs121909516
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)	rs774425374
NM_000080.4(CHRNE):c.602-4_602-3delinsTT	rs1597619689
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	rs753828284
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)	rs201434993
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)	rs759226183
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)	rs773929089
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)	rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del)	rs1555546465
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg)	rs1490577163

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