ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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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_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_004004.6(GJB2):c.79_82delinsAGA (p.Val27fs) rs2137308740
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter) rs2148046428
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742

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