ClinVar Miner

List of variants in gene TRAPPC9 reported as pathogenic

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter) rs889624353 0.00003
NM_001160372.4(TRAPPC9):c.2491C>T (p.Arg831Ter) rs373701249 0.00002
NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter) rs781469639 0.00002
NM_031466.8(TRAPPC9):c.-258_-257del rs1402095850 0.00002
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001160372.4(TRAPPC9):c.1929C>G (p.Tyr643Ter) rs753641201 0.00001
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter) rs766614772 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
GRCh37/hg19 8q24.3(chr8:141270416-141289943)x1
NC_000008.10:g.(?_141034014)_(141034196_?)del
NC_000008.10:g.(?_141285737)_(141285940_?)del
NC_000008.10:g.(?_141321327)_(141321493_?)del
NC_000008.10:g.(?_141460869)_(141461502_?)del
NM_001160372.4(TRAPPC9):c.142del (p.Asp48fs) rs2071449894
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1537A>T (p.Lys513Ter)
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001160372.4(TRAPPC9):c.183C>G (p.Tyr61Ter)
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
NM_001160372.4(TRAPPC9):c.1856_1857insACCAA (p.Leu620fs)
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs) rs2131714597
NM_001160372.4(TRAPPC9):c.2018del (p.Cys673fs)
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs) rs2131714307
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
NM_001160372.4(TRAPPC9):c.2194C>T (p.Gln732Ter)
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs) rs2131321455
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
NM_001160372.4(TRAPPC9):c.2557-2A>C rs1587520018
NM_001160372.4(TRAPPC9):c.2699+1G>A rs2131922149
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs) rs1837435094
NM_001160372.4(TRAPPC9):c.2749G>T (p.Glu917Ter) rs2131709148
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs) rs1554689964
NM_001160372.4(TRAPPC9):c.2841dup (p.Glu948Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001160372.4(TRAPPC9):c.2954dup (p.Cys985fs)
NM_001160372.4(TRAPPC9):c.2957G>A (p.Trp986Ter) rs979340117
NM_001160372.4(TRAPPC9):c.3013C>T (p.Gln1005Ter)
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001160372.4(TRAPPC9):c.3036_3040dup (p.Ala1014fs) rs2131116634
NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA (p.Asn1074_Tyr1075delinsAspTer) rs1554632235
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) rs58740567
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs) rs1174482090
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs) rs1554689877
NM_001160372.4(TRAPPC9):c.604del (p.Gln202fs)
NM_001160372.4(TRAPPC9):c.620_623dup (p.His208fs)
NM_031466.8(TRAPPC9):c.-110_-103dup
NM_031466.8(TRAPPC9):c.-124dup rs765943218
NM_031466.8(TRAPPC9):c.-125_-124insTACCGTGAGGGTCACGGGGG rs1588397346
NM_031466.8(TRAPPC9):c.-204C>T rs1297489863

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