ClinVar Miner

List of variants in gene TMEM67 reported as likely pathogenic for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 0.00001
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His) rs768457119 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.1066-1G>A
NM_153704.6(TMEM67):c.1132-1G>T
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.1288+1G>A
NM_153704.6(TMEM67):c.1289-16_1289-12del
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1518+2T>C
NM_153704.6(TMEM67):c.1576-2del
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
NM_153704.6(TMEM67):c.1674+1G>A rs1211156516
NM_153704.6(TMEM67):c.1675-1G>T
NM_153704.6(TMEM67):c.1774-6_1774-3inv
NM_153704.6(TMEM67):c.1861-1G>A
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val) rs863225238
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2322+1G>T
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.406+1G>A
NM_153704.6(TMEM67):c.407-1G>T
NM_153704.6(TMEM67):c.407-2A>G rs2130576231
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773

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.