ClinVar Miner

Variants in gene TRAPPC9 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974 0.00512
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) rs61736350 0.00284
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=) rs148857575 0.00222
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) rs117632905 0.00151
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) rs148976893 0.00136
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=) rs112997540 0.00089
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=) rs146235874 0.00029
NM_001160372.4(TRAPPC9):c.*532G>A rs187594197
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=) rs145960296

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