ClinVar Miner

List of variants reported as uncertain significance for lethal multiple pterygium syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (6):

Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 3A; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome; Congenital myasthenic syndrome 3B; Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel; Congenital myasthenic syndrome 1A

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys)	rs745355427	0.00001
NM_005199.5(CHRNG):c.1180C>G (p.Pro394Ala)	rs771886490	0.00001
NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro)	rs2105350715

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