ClinVar Miner

List of variants reported as likely benign for auditory system disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_016239.4(MYO15A):c.10443G>A (p.Ala3481=) rs190486507 0.00208
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00034
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323

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