List of variants studied for Meckel syndrome by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	rs779823379	0.00002
NM_024809.5(TCTN2):c.1506-2A>G	rs374349989	0.00002
NM_001077418.3(TMEM231):c.310-2A>G	rs2151703192
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)	rs1720848250
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)	rs1577406415
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)	rs2143753386
NM_024809.5(TCTN2):c.1286dup (p.Asn429fs)	rs1555293215
NM_024809.5(TCTN2):c.862_863del (p.Val288fs)	rs1955997540
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)	rs886039805

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.