ClinVar Miner

List of variants reported as uncertain significance 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: 27
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) rs544020493 0.00002
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) rs764077250 0.00001
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779

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