ClinVar Miner

List of variants in gene combination ANAPC15, LRTOMT, TOMT reported as uncertain significance for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_001393500.2(TOMT):c.*437T>C rs766985557 0.00054
NM_001393500.2(TOMT):c.486C>T (p.Asp162=) rs373088272 0.00022
NM_001393500.2(TOMT):c.550C>T (p.Arg184Trp) rs72953778 0.00016
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr) rs570166217 0.00016
NM_001393500.2(TOMT):c.551G>A (p.Arg184Gln) rs372524977 0.00009
NM_001393500.2(TOMT):c.685C>T (p.Arg229Cys) rs886048634 0.00008
NM_001393500.2(TOMT):c.469G>A (p.Val157Met) rs886048631 0.00004
NM_001393500.2(TOMT):c.655C>T (p.Arg219Cys) rs370168246 0.00004
NM_001393500.2(TOMT):c.698G>A (p.Arg233His) rs776760828 0.00004
NM_001393500.2(TOMT):c.*580C>T rs1416416166 0.00003
NM_001393500.2(TOMT):c.681T>G (p.Cys227Trp) rs886048633 0.00003
NM_001393500.2(TOMT):c.*400C>A rs956514341 0.00002
NM_001393500.2(TOMT):c.*638C>T rs1217502070 0.00002
NM_001393500.2(TOMT):c.404C>T (p.Thr135Met) rs537610140 0.00002
NM_001393500.2(TOMT):c.*336C>T rs886048638 0.00001
NM_001393500.2(TOMT):c.274C>T (p.Arg92Trp) rs762128762 0.00001
NM_001393500.2(TOMT):c.400C>T (p.Arg134Cys) rs1038978268 0.00001
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) rs529549122 0.00001
NM_001393500.2(TOMT):c.*205C>T rs1946063829
NM_001393500.2(TOMT):c.*244C>A rs538247137
NM_001393500.2(TOMT):c.*601A>C rs116397624
NM_001393500.2(TOMT):c.*622C>T rs776032348
NM_001393500.2(TOMT):c.360G>A (p.Leu120=) rs886048630
NM_001393500.2(TOMT):c.361C>G (p.Pro121Ala) rs1288510412
NM_001393500.2(TOMT):c.493C>T (p.Pro165Ser) rs886048632
NM_001393500.2(TOMT):c.761A>G (p.Tyr254Cys) rs886048635
NM_001393500.2(TOMT):c.773G>A (p.Gly258Asp) rs886048636

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