ClinVar Miner

List of variants studied for Meckel syndrome by New York Genome Center

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00004
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00003
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00002
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]

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.