ClinVar Miner

List of variants reported as likely pathogenic for lethal multiple pterygium syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 5

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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.44-1G>A
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)

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