ClinVar Miner

List of variants reported as pathogenic for acquired skeletal muscle disease by Department of Neurology, University Hospital of Strasbourg

Included ClinVar conditions (2):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	rs61752783	0.00516
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)	rs200939753	0.00009
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)	rs515726184	0.00001

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