List of variants reported as likely pathogenic for Meckel syndrome by Counsyl

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_017777.4(MKS1):c.190+2T>C	rs375170572	0.00004
NM_001173990.3(TMEM216):c.35-2A>G	rs1057517528	0.00002
NM_017777.4(MKS1):c.1024+1G>A	rs199874059	0.00002
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	rs1057517512	0.00001
NM_001173990.3(TMEM216):c.34+2T>C	rs1057517498	0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)	rs756853299	0.00001
NM_017777.4(MKS1):c.515+1G>A	rs201933838	0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)	rs386834051	0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	rs797045706	0.00001
NM_001173990.3(TMEM216):c.137-1G>A	rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	rs1554972556
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	rs767384710
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	rs147267631
NM_017777.4(MKS1):c.1025-2A>C	rs794727070
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017777.4(MKS1):c.1166-2A>G	rs1488635637
NM_017777.4(MKS1):c.1394del (p.Pro465fs)	rs865870355
NM_017777.4(MKS1):c.1408-2A>G	rs1555596943
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)	rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)	rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val)	rs1555601787
NM_017777.4(MKS1):c.367dup (p.Arg123fs)	rs775043799
NM_017777.4(MKS1):c.515+2T>G	rs1376664664
NM_017777.4(MKS1):c.80+2T>C	rs386834052
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	rs1555599412
NM_017777.4(MKS1):c.858+1G>A	rs756102768

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.