List of variants in gene ABCC9, KCNJ8 studied for Cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)	rs150303433	0.00209
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)	rs140182559	0.00018
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)	rs145005748	0.00017
NM_020297.4(ABCC9):c.4638C>T (p.Arg1546=)	rs143310355	0.00013
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=)	rs368079660	0.00006
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)	rs199900459	0.00003
NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=)	rs760351484	0.00001
NM_020297.4(ABCC9):c.3863T>C (p.Met1288Thr)	rs772795759	0.00001
NM_020297.4(ABCC9):c.4362A>G (p.Arg1454=)	rs1941931456
NM_020297.4(ABCC9):c.4450-5del	rs4148680
NM_020297.4(ABCC9):c.4450-5dup	rs4148680
NM_020297.4(ABCC9):c.4512+746_4512+747insT	rs761784169
NM_020297.4(ABCC9):c.4512+814C>T	rs387906805

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.