ClinVar Miner

List of variants in gene TRAF3IP1 reported as pathogenic for not provided

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_015650.4(TRAF3IP1):c.1159G>T (p.Gly387Ter) rs538383901 0.00001
NM_015650.4(TRAF3IP1):c.1693C>T (p.Arg565Ter) rs760692076 0.00001
NC_000002.11:g.(?_239229304)_(239238003_?)del
NC_000002.12:g.238332824_238332827del rs745954112
NM_015650.4(TRAF3IP1):c.1081_1082del (p.Ile361fs) rs1698484511
NM_015650.4(TRAF3IP1):c.1490del (p.Glu497fs) rs1699234403
NM_015650.4(TRAF3IP1):c.369dup (p.Ala124fs)
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.4(TRAF3IP1):c.522del (p.Glu175fs) rs2106363697
NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter)
NM_015650.4(TRAF3IP1):c.688C>T (p.Arg230Ter)
NM_015650.4(TRAF3IP1):c.699del (p.Asp233fs)
NM_015650.4(TRAF3IP1):c.702_703del (p.Gly235fs) rs1697992162
NM_015650.4(TRAF3IP1):c.750_753del (p.Lys252fs) rs1472268761
NM_015650.4(TRAF3IP1):c.768dup (p.Lys257fs) rs768602332
NM_015650.4(TRAF3IP1):c.771del (p.Glu258fs)
NM_015650.4(TRAF3IP1):c.774_775del (p.Lys259fs)
NM_015650.4(TRAF3IP1):c.796del (p.Asp266fs) rs2106364423
NM_015650.4(TRAF3IP1):c.799C>T (p.Arg267Ter)
NM_015650.4(TRAF3IP1):c.802G>T (p.Glu268Ter)
NM_015650.4(TRAF3IP1):c.926del (p.Ser308_Ser309insTer) rs1698195483

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