ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome, type 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149 0.00124
NM_024809.5(TCTN2):c.*258G>C rs540710300 0.00109
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349 0.00070
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_024809.5(TCTN2):c.*477G>A rs147565143 0.00038
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519 0.00022
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978 0.00021
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344 0.00011
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) rs369121651 0.00009
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837 0.00009
NM_024809.5(TCTN2):c.564+3A>C rs761089886 0.00008
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) rs372235872 0.00006
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) rs553095875 0.00006
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) rs147746146 0.00006
NM_024809.5(TCTN2):c.267+3A>G rs748772785 0.00005
NM_024809.5(TCTN2):c.*146C>T rs1046414186 0.00004
NM_024809.5(TCTN2):c.*587C>T rs548909798 0.00004
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) rs543166165 0.00004
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126 0.00004
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417 0.00002
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) rs1226080375 0.00002
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser) rs148783076 0.00002
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874 0.00002
NM_024809.5(TCTN2):c.*559C>T rs1427290366 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.1393+15T>C rs541103051 0.00001
NM_024809.5(TCTN2):c.1394-6T>C rs774357206 0.00001
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) rs765238420 0.00001
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) rs757725319 0.00001
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140 0.00001
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) rs770325331 0.00001
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642 0.00001
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) rs759754931 0.00001
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*290C>G rs886531596
NM_024809.5(TCTN2):c.*493T>A rs569489612
NM_024809.5(TCTN2):c.*562G>C rs772401980
NM_024809.5(TCTN2):c.*608T>C rs1956257782
NM_024809.5(TCTN2):c.*71T>G rs1956249051
NM_024809.5(TCTN2):c.1167G>T (p.Trp389Cys) rs1956089092
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) rs1956093773
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) rs763505614
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.464-7T>A rs1955862855
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) rs776834352
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) rs376996387
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) rs368146331
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055

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.