ClinVar Miner

List of variants studied for Deafness, autosomal recessive 63

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ClinVar version:
Total variants: 82
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HGVS dbSNP
Multiple alleles
NC_000011.10:g.72080754A>G
NC_000011.10:g.72080785T>C
NM_001145308.4(LRTOMT):c.*1116G>A rs375298971
NM_001145308.4(LRTOMT):c.*1160T>C rs201099496
NM_001145308.4(LRTOMT):c.*1185G>A rs531848254
NM_001145308.4(LRTOMT):c.*1363C>A rs759367241
NM_001145308.4(LRTOMT):c.*1773C>T rs561162900
NM_001145308.4(LRTOMT):c.*1788C>G rs886048640
NM_001145308.4(LRTOMT):c.*1810A>T rs142914900
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.*877T>C rs113912971
NM_001145308.4(LRTOMT):c.-123T>C rs369105155
NM_001145308.4(LRTOMT):c.-149C>T rs145851613
NM_001145308.4(LRTOMT):c.-254G>T rs144139038
NM_001145308.4(LRTOMT):c.-305G>A rs886048627
NM_001145308.4(LRTOMT):c.-322+1G>T rs1565309133
NM_001145308.4(LRTOMT):c.-322+5G>A rs767961368
NM_001145308.4(LRTOMT):c.-344G>A rs886048626
NM_001145308.4(LRTOMT):c.-379T>C rs886048625
NM_001145308.4(LRTOMT):c.-409G>A rs886048624
NM_001145308.4(LRTOMT):c.-481G>T rs886048623
NM_001145308.4(LRTOMT):c.-52G>C rs149637884
NM_001145308.4(LRTOMT):c.-554G>A rs886048622
NM_001145308.4(LRTOMT):c.-57G>A rs145488053
NM_001145308.4(LRTOMT):c.-705A>G rs886048621
NM_001145308.4(LRTOMT):c.-743G>A rs114912925
NM_001145308.4(LRTOMT):c.-762C>A rs185830107
NM_001145308.4(LRTOMT):c.-816C>T rs535003776
NM_001145308.4(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148
NM_001145308.4(LRTOMT):c.189G>A (p.Thr63=) rs556093010
NM_001145308.4(LRTOMT):c.196C>G (p.Leu66Val) rs876657864
NM_001145308.4(LRTOMT):c.209G>A (p.Arg70Gln) rs188715129
NM_001145308.4(LRTOMT):c.222A>G (p.Ser74=) rs397516626
NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185
NM_001145308.4(LRTOMT):c.276C>T (p.Pro92=) rs886048629
NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg) rs137853186
NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) rs137853187
NM_001145308.4(LRTOMT):c.333C>G (p.Tyr111Ter) rs137853188
NM_001145308.4(LRTOMT):c.352G>A (p.Val118Ile) rs181092713
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
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.*1225T>A
NM_001145308.5(LRTOMT):c.*1488T>G
NM_001145308.5(LRTOMT):c.*1544A>G
NM_001145308.5(LRTOMT):c.*1608G>C
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.*851G>A
NM_001145308.5(LRTOMT):c.*860G>A
NM_001145308.5(LRTOMT):c.-174A>G
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)
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
NM_006185.4(NUMA1):c.-103+12G>A
NM_006185.4(NUMA1):c.-103+136G>A
NM_006185.4(NUMA1):c.-127A>C
NM_006185.4(NUMA1):c.-149G>C

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