List of variants reported for ZTTK syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138927.4(SON):c.1002_5016del (p.Glu335fs)
NM_138927.4(SON):c.1881_1882del (p.Val629fs)	rs1569053308
NM_138927.4(SON):c.2365del (p.Ser789fs)	rs1555898531
NM_138927.4(SON):c.268del (p.Ser90fs)	rs1569050345
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	rs1064796472
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs)	rs1569055781
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)	rs1114167303
NM_138927.4(SON):c.4055del (p.Pro1352fs)	rs1569056484
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del)	rs769691894
NM_138927.4(SON):c.4358_4359del (p.Thr1453fs)	rs1601268952
NM_138927.4(SON):c.4549dup (p.Glu1517fs)	rs1569057333
NM_138927.4(SON):c.4640del (p.His1547fs)	rs886039776
NM_138927.4(SON):c.4999_5013del (p.Asp1667_Asn1671del)	rs1569058041
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs)	rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs)	rs886039775
NM_138927.4(SON):c.6087del (p.Ser2029fs)	rs1569059792

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.