List of variants reported as likely pathogenic for arterial calcification, generalized, of infancy, 2 by Fulgent Genetics, Fulgent Genetics

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)	rs72653772	0.00011
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)	rs63750427	0.00009
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)	rs72653788	0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs)	rs67867306	0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)	rs63750459	0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)	rs60791294	0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)	rs374086268	0.00006
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)	rs63750402	0.00003
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)	rs63751215	0.00002
NM_001171.6(ABCC6):c.3883-6G>A	rs72664214	0.00002
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)	rs72653759
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)	rs1596649191
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)	rs1567465730
NM_001171.6(ABCC6):c.998+2_998+3del	rs72664204

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.