ClinVar Miner

List of variants in gene TMPO reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001032283.3(TMPO):c.565+2368G>A rs138295270 0.00058
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001032283.3(TMPO):c.806G>A (p.Arg269His) rs142891873 0.00017
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.614G>A (p.Arg205Lys) rs727504952 0.00004
NM_001032283.3(TMPO):c.1174C>T (p.Pro392Ser) rs727504622 0.00003
NM_001032283.3(TMPO):c.565+1917A>G rs727505217 0.00003
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1606C>T rs727505047 0.00001
NM_001032283.3(TMPO):c.565+2296C>T rs397516843
NM_001032283.3(TMPO):c.565+2461_565+2463del rs727503491
NM_001032283.3(TMPO):c.77C>T (p.Thr26Met) rs397516494
NM_001032283.3(TMPO):c.991-14_991-11del rs397516495

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