ClinVar Miner

List of variants in gene CHRNG reported as likely pathogenic for lethal multiple pterygium syndrome

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	rs1559302834	0.00001
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys)	rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)

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