ClinVar Miner

List of variants studied for lethal multiple pterygium syndrome by Genome-Nilou Lab

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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T	rs2646164	0.99734
NM_000079.4(CHRNA1):c.1003-53A>G	rs2646159	0.87287
NM_000079.4(CHRNA1):c.190-5del	rs34695580
NM_000079.4(CHRNA1):c.43+59G>T	rs7560774

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