ClinVar Miner

List of variants reported as pathogenic for lethal multiple pterygium syndrome by 3billion

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)	rs765746795	0.00001
NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs)	rs1574007436
NM_005199.5(CHRNG):c.240+1del	rs777809198

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