ClinVar Miner

List of variants studied for myofibrillar myopathy 6 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (2):

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_004281.4(BAG3):c.1408C>T (p.Pro470Ser)	rs756020699
NM_004281.4(BAG3):c.30G>A (p.Met10Ile)	rs1275338906
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)	rs201487919
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)	rs121918312

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