ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg) rs143577626
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)
NM_004452.3(ESRRB):c.1438C>T (p.Pro480Ser) rs201448899
NM_013296.5(GPSM2):c.478G>C (p.Gly160Arg) rs1557862489
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_017433.5(MYO3A):c.3398+3A>G rs373758358
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618
NM_144612.6(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016
NM_147196.2(TMIE):c.191C>T (p.Ser64Leu) rs189895472
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910

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