ClinVar Miner

List of variants studied for congenital myasthenic syndrome 9 by OMIM

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	rs199476083	0.00018
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg)	rs387906803
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)	rs766640370
NM_005592.4(MUSK):c.2180C>T (p.Ala727Val)	rs397515450
NM_005592.4(MUSK):c.220dup (p.Arg74fs)	rs879255561

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