ClinVar Miner

List of variants in gene ANAPC15, LRTOMT, TOMT studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001145308.4(LRTOMT):c.*336C>T rs886048638
NM_001145308.4(LRTOMT):c.*437T>C rs766985557
NM_001145308.4(LRTOMT):c.*601A>C rs116397624
NM_001145308.4(LRTOMT):c.*622C>T rs776032348
NM_001145308.4(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474
NM_001145308.4(LRTOMT):c.459G>A (p.Leu153=) rs886048630
NM_001145308.4(LRTOMT):c.503C>T (p.Thr168Met) rs537610140
NM_001145308.4(LRTOMT):c.538G>A (p.Gly180Ser) rs529549122
NM_001145308.4(LRTOMT):c.568G>A (p.Val190Met) rs886048631
NM_001145308.4(LRTOMT):c.585C>T (p.Asp195=) rs373088272
NM_001145308.4(LRTOMT):c.592C>T (p.Pro198Ser) rs886048632
NM_001145308.4(LRTOMT):c.614_617dup (p.Ser207fs) rs797044907
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145308.4(LRTOMT):c.649C>T (p.Arg217Trp) rs72953778
NM_001145308.4(LRTOMT):c.780T>G (p.Cys260Trp) rs886048633
NM_001145308.4(LRTOMT):c.784C>T (p.Arg262Cys) rs886048634
NM_001145308.4(LRTOMT):c.797G>A (p.Arg266His) rs776760828
NM_001145308.4(LRTOMT):c.802C>T (p.His268Tyr) rs570166217
NM_001145308.4(LRTOMT):c.860A>G (p.Tyr287Cys) rs886048635
NM_001145308.4(LRTOMT):c.872G>A (p.Gly291Asp) rs886048636
NM_001145308.5(LRTOMT):c.*205C>T
NM_001145308.5(LRTOMT):c.*244C>A
NM_001145308.5(LRTOMT):c.*400C>A
NM_001145308.5(LRTOMT):c.*580C>T
NM_001145308.5(LRTOMT):c.*638C>T
NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp)
NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala)
NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln)
NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys)
NM_001330321.2(ANAPC15):c.319-343_319-342insCGAG rs1565331646

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