ClinVar Miner

Variants in gene TRMU with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys) rs150043707 0.00003
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018006.5(TRMU):c.369T>C (p.Ile123=) rs546183296 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096

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