ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NC_000011.10:g.77190085_77190095del rs397516303
NM_000260.4(MYO7A):c.4168G>T (p.Glu1390Ter)
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter) rs1956759935
NM_000260.4(MYO7A):c.4485G>A (p.Trp1495Ter)
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001145026.2(PTPRQ):c.6742C>T (p.Gln2248Ter)
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383

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