ClinVar Miner

List of variants in gene TRAPPC12 studied for Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=) rs10865541 0.62092
NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=) rs6767 0.44208
NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=) rs4971514 0.41325
NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly) rs11686212 0.39756
NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=) rs11127423 0.22847
NM_016030.6(TRAPPC12):c.1417+16T>C rs112370205 0.02827
NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser) rs758495770 0.00020
NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met) rs201791969 0.00008
NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly) rs200774577 0.00003
NM_016030.6(TRAPPC12):c.1603+5G>C rs747491323 0.00001
NM_016030.6(TRAPPC12):c.1604-1G>T rs375354960 0.00001
NM_016030.6(TRAPPC12):c.1677+5G>A rs772333765 0.00001
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val) rs768950892 0.00001
NM_016030.6(TRAPPC12):c.2090T>C (p.Leu697Pro) rs1277040737 0.00001
NM_016030.6(TRAPPC12):c.1047+72_1047+73delinsCA rs67764511
NM_016030.6(TRAPPC12):c.1164+1G>T rs755967000
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_016030.6(TRAPPC12):c.1531-3C>T
NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val) rs773583668
NM_016030.6(TRAPPC12):c.1678-2A>G rs2528802018
NM_016030.6(TRAPPC12):c.1685T>C (p.Val562Ala)
NM_016030.6(TRAPPC12):c.1776+16C>A rs1553326322
NM_016030.6(TRAPPC12):c.1778T>G (p.Ile593Ser) rs1666353803
NM_016030.6(TRAPPC12):c.1822A>T (p.Lys608Ter) rs764323391
NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg) rs761982198
NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs) rs1200912683
NM_016030.6(TRAPPC12):c.1965G>A (p.Val655=) rs1325691630
NM_016030.6(TRAPPC12):c.2071G>C (p.Glu691Gln) rs779320275
NM_016030.6(TRAPPC12):c.2207A>G (p.Ter736Trp)
NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs) rs2528226967
NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly) rs780290712
NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs) rs1135401749
NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys) rs371884821
NM_016030.6(TRAPPC12):c.56del (p.Pro19fs) rs757636155
NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val) rs1318353446
NM_016030.6(TRAPPC12):c.664G>T (p.Asp222Tyr) rs2528233534
NM_016030.6(TRAPPC12):c.681T>A (p.Phe227Leu)
NM_016030.6(TRAPPC12):c.722del (p.Gly241fs)
NM_016030.6(TRAPPC12):c.94del (p.Gln32fs) rs2528224626
NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter) rs756361030

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.