ClinVar Miner

List of variants in gene CHRNG reported as benign 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.921-12C>T	rs13018423	0.22363
NM_005199.5(CHRNG):c.507-13C>T	rs2853462	0.20012
NM_005199.5(CHRNG):c.951C>A (p.Ile317=)	rs75369104	0.00988
NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	rs141402683	0.00050

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