ClinVar Miner

List of variants in gene TRAPPC11 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) rs1216637259 0.00004
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642 0.00003
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter) rs569565392 0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg) rs397509417 0.00001
NM_021942.6(TRAPPC11):c.3193C>T (p.Arg1065Ter) rs750976634 0.00001
NC_000004.11:g.(?_184585021)_(184585244_?)del
NC_000004.11:g.(?_184622830)_(184633797_?)del
NC_000004.12:g.(?_183663858)_(183712654_?)del
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter) rs2111348673
NM_021942.6(TRAPPC11):c.1131del (p.Asn378fs)
NM_021942.6(TRAPPC11):c.1190G>A (p.Trp397Ter)
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer) rs1414226750
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter) rs2111363477
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter) rs1735877322
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)
NM_021942.6(TRAPPC11):c.1568-1G>T rs1180079162
NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)
NM_021942.6(TRAPPC11):c.171_174dup (p.Asp59delinsArgTer)
NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs) rs1554009901
NM_021942.6(TRAPPC11):c.2173del (p.Arg725fs)
NM_021942.6(TRAPPC11):c.2567_2568del (p.Tyr856fs) rs1579207748
NM_021942.6(TRAPPC11):c.2625del (p.His875fs) rs1736442342
NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs) rs1400419850
NM_021942.6(TRAPPC11):c.370del (p.Val124fs)
NM_021942.6(TRAPPC11):c.371_374del (p.Val124fs) rs769785004
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) rs771717941
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs) rs1735328958
NM_021942.6(TRAPPC11):c.661-1G>T rs886041052
NM_021942.6(TRAPPC11):c.666_669del (p.Phe223fs)
NM_021942.6(TRAPPC11):c.725del (p.Asn242fs)
NM_021942.6(TRAPPC11):c.886C>T (p.Arg296Ter)
NM_021942.6(TRAPPC11):c.913_914del (p.Lys305fs)

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