ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 14 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (6):

Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Sick sinus syndrome 3, susceptibility to
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)	rs372736126	0.00007
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)	rs536807961	0.00002
NM_002471.4(MYH6):c.1014C>A (p.Asp338Glu)	rs763533477
NM_002471.4(MYH6):c.2334G>C (p.Met778Ile)
NM_002471.4(MYH6):c.2369T>C (p.Met790Thr)
NM_002471.4(MYH6):c.5360del (p.Asn1787fs)

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