ClinVar Miner

List of variants reported by Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu) rs141972928 0.00038
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met) rs908303704
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr) rs2107537096
NM_001354604.2(MITF):c.644dup (p.His215fs) rs2107483975
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs) rs2137308740
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) rs1554218566
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter) rs2145777835
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu) rs1932280017
NM_006941.4(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_181458.4(PAX3):c.281G>T (p.Gly94Val) rs2106203654
NM_181458.4(PAX3):c.586+2T>A rs2106196576
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
Single allele

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