List of variants studied for KID syndrome by OMIM

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)	rs1160266009	0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00001
NC_000022.10:g.29758984_29815476del
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)	rs2147978539
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)	rs1334834057
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)	rs1602683532
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)	rs780548317
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
NM_001127.4(AP1B1):c.38-1G>A	rs1602761438
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)	rs1602749299
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)	rs2147995205
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)	rs28931594
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)	rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)	rs28929485

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.