List of variants in gene CHRNA1 reported as benign for Lethal multiple pterygium syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T	rs2646164	0.99734
NM_000079.4(CHRNA1):c.1003-53A>G	rs2646159	0.87287
NM_001039523.2(CHRNA1):c.-478A>G	rs16862847	0.13301
NM_000079.4(CHRNA1):c.960C>T (p.His320=)	rs2229957	0.08849
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)	rs6739001	0.02064
NM_000079.4(CHRNA1):c.540+4G>C	rs112674580	0.01914
NM_000079.4(CHRNA1):c.*426C>A	rs115375214	0.00774
NM_000079.4(CHRNA1):c.*218C>T	rs79539026	0.00579
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)	rs61737716	0.00561
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)	rs148304857	0.00413
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)	rs150638770	0.00220
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=)	rs74533173	0.00185
NM_000079.4(CHRNA1):c.189+12G>A	rs201168898	0.00075
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)	rs189442556	0.00008
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)	rs374093236	0.00007
NM_000079.4(CHRNA1):c.1003-8dup
NM_000079.4(CHRNA1):c.190-13dup	rs34695580
NM_000079.4(CHRNA1):c.190-5del	rs34695580
NM_000079.4(CHRNA1):c.43+59G>T	rs7560774

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