ClinVar Miner

List of variants in gene combination ANAPC15, LRTOMT, TOMT reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 63

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474 0.00178
NM_001145308.5(LRTOMT):c.*437T>C rs766985557 0.00050
NM_001145308.5(LRTOMT):c.503C>T (p.Thr168Met) rs537610140 0.00040
NM_001145308.5(LRTOMT):c.585C>T (p.Asp195=) rs373088272 0.00022
NM_001145308.5(LRTOMT):c.649C>T (p.Arg217Trp) rs72953778 0.00016
NM_001145308.5(LRTOMT):c.802C>T (p.His268Tyr) rs570166217 0.00016
NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln) rs372524977 0.00009
NM_001145308.5(LRTOMT):c.784C>T (p.Arg262Cys) rs886048634 0.00009
NM_001145308.5(LRTOMT):c.568G>A (p.Val190Met) rs886048631 0.00004
NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys) rs370168246 0.00004
NM_001145308.5(LRTOMT):c.*580C>T rs1416416166 0.00003
NM_001145308.5(LRTOMT):c.538G>A (p.Gly180Ser) rs529549122 0.00003
NM_001145308.5(LRTOMT):c.797G>A (p.Arg266His) rs776760828 0.00003
NM_001145308.5(LRTOMT):c.*400C>A rs956514341 0.00002
NM_001145308.5(LRTOMT):c.*638C>T rs1217502070 0.00002
NM_001145308.5(LRTOMT):c.780T>G (p.Cys260Trp) rs886048633 0.00002
NM_001145308.5(LRTOMT):c.*205C>T rs1946063829 0.00001
NM_001145308.5(LRTOMT):c.*336C>T rs886048638 0.00001
NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp) rs762128762 0.00001
NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys) rs1038978268 0.00001
NM_001145308.5(LRTOMT):c.*244C>A rs538247137
NM_001145308.5(LRTOMT):c.*601A>C rs116397624
NM_001145308.5(LRTOMT):c.*622C>T rs776032348
NM_001145308.5(LRTOMT):c.459G>A (p.Leu153=) rs886048630
NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala) rs1288510412
NM_001145308.5(LRTOMT):c.491G>A (p.Arg164Gln)
NM_001145308.5(LRTOMT):c.529C>T (p.Arg177Cys)
NM_001145308.5(LRTOMT):c.592C>T (p.Pro198Ser) rs886048632
NM_001145308.5(LRTOMT):c.860A>G (p.Tyr287Cys) rs886048635
NM_001145308.5(LRTOMT):c.872G>A (p.Gly291Asp) rs886048636

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