List of variants in gene CHRNA1 reported as pathogenic for lethal multiple pterygium syndrome

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	rs768407867	0.00004
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)	rs746404398	0.00003
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)	rs750329103	0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	rs374391312	0.00001
NC_000002.11:g.(?_175612832)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175629122_?)del
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs)	rs768863116
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter)	rs1684009556
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs)	rs753250273
NM_000079.4(CHRNA1):c.345-63_403del
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter)	rs1683929269
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	rs1064793397
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)	rs137852809
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys)	rs137852798
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter)	rs1208011631

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