List of variants in gene CHRNA1 reported as likely pathogenic 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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)	rs146464862	0.00003
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)	rs779169597	0.00001
NM_000079.4(CHRNA1):c.779-1_779insA	rs771260711	0.00001
NM_000079.4(CHRNA1):c.44-1G>A
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	rs1064793397
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	rs137852805
NM_000079.4(CHRNA1):c.778+2T>A

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