List of variants studied for Meckel syndrome by Neuberg Centre For Genomic Medicine, NCGM

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)	rs200707391	0.00061
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)	rs745646755	0.00004
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	rs1412133967	0.00001
NM_001173990.3(TMEM216):c.431+3A>G
NM_001378615.1(CC2D2A):c.740G>T (p.Gly247Val)
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_025114.4(CEP290):c.6249dup (p.Lys2084Ter)

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.