ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 63

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006185.4(NUMA1):c.-103+136G>A rs116038324 0.00480
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_014042.3(ANAPC15):c.121-132T>A rs142914900 0.00418
NM_001393500.2(TOMT):c.253G>A (p.Val85Ile) rs181092713 0.00416
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_001393500.2(TOMT):c.298G>C (p.Ala100Pro) rs76657474 0.00178
NM_145309.6(LRRC51):c.150G>T (p.Leu50=) rs144139038 0.00106
NM_001393500.2(TOMT):c.*437T>C rs766985557 0.00054
NM_145309.6(LRRC51):c.281T>C (p.Ile94Thr) rs369105155 0.00032
NM_014042.3(ANAPC15):c.181-63G>T rs759367241 0.00031
NM_001393500.2(TOMT):c.486C>T (p.Asp162=) rs373088272 0.00022
NM_006185.4(NUMA1):c.-103+13G>T rs185830107 0.00021
NM_014042.3(ANAPC15):c.*105C>T rs186960319 0.00021
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_014042.3(ANAPC15):c.296C>T (p.Pro99Leu) rs531848254 0.00016
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln) rs188715129 0.00014
NM_014042.3(ANAPC15):c.180+75T>C rs912805774 0.00014
NM_145309.6(LRRC51):c.-140+5G>A rs767961368 0.00013
NM_014042.3(ANAPC15):c.318+3A>G rs201099496 0.00010
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_006185.4(NUMA1):c.-147T>C rs886048621 0.00007
NM_001393500.2(TOMT):c.123A>G (p.Ser41=) rs397516626 0.00006
NM_145309.6(LRRC51):c.-162G>A rs886048626 0.00006
NM_001145308.4(LRTOMT):c.-554G>A rs886048622 0.00005
NM_001393500.2(TOMT):c.177C>T (p.Pro59=) rs886048629 0.00005
NM_001145308.4(LRTOMT):c.-422T>C rs1042068599 0.00004
NM_001145308.4(LRTOMT):c.-453A>G rs1450426179 0.00004
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.90G>A (p.Thr30=) rs556093010 0.00004
NM_014042.3(ANAPC15):c.318+47C>T rs375298971 0.00004
NM_145309.6(LRRC51):c.347G>A (p.Arg116His) rs145488053 0.00004
NM_001145308.4(LRTOMT):c.-379T>C rs886048625 0.00003
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_145309.6(LRRC51):c.99G>A (p.Glu33=) rs886048627 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.55C>T (p.Arg19Trp) rs1372399805 0.00001
NM_001393500.2(TOMT):c.62G>A (p.Arg21Gln) rs764268350 0.00001
NM_001393500.2(TOMT):c.73C>T (p.Arg25Ter) rs1298804148 0.00001
NM_001393500.2(TOMT):c.97C>G (p.Leu33Val) rs876657864 0.00001
NM_014042.3(ANAPC15):c.180+11C>G rs769123440 0.00001
NM_014042.3(ANAPC15):c.256A>T (p.Met86Leu) rs1469899576 0.00001
NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) rs1382614042 0.00001
NM_001145308.4(LRTOMT):c.-409G>A rs886048624
NM_001145308.4(LRTOMT):c.-481G>T rs886048623
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
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
NM_001393500.2(TOMT):c.80T>C (p.Leu27Pro)
NM_006185.4(NUMA1):c.-103+12G>A rs1944076918
NM_006185.4(NUMA1):c.-103+67G>A rs535003776
NM_006185.4(NUMA1):c.-127A>C rs990462302
NM_006185.4(NUMA1):c.-149G>C rs918454674
NM_014042.3(ANAPC15):c.*96C>T rs1946187692
NM_014042.3(ANAPC15):c.121-110G>C rs886048640
NM_014042.3(ANAPC15):c.121-95G>A rs561162900
NM_014042.3(ANAPC15):c.180+131A>C rs932792064
NM_145309.6(LRRC51):c.-140+1G>T rs1565309133
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413

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