ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss by Laboratory of Human Genetics, Universidade de São Paulo

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_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs) rs1157689930 0.00004
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg) rs753790346 0.00001
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_001039141.3(TRIOBP):c.3295C>T (p.Gln1099Ter)
NM_001039213.4(CEACAM16):c.436C>T (p.Arg146Ter)
NM_001145026.2(PTPRQ):c.473_474insTA (p.Val159fs)
NM_001146079.2(CLDN14):c.291C>A (p.Cys97Ter)
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_004004.6(GJB2):c.[101T>C;550C>T]
NM_016239.4(MYO15A):c.9229+1G>A
NM_016366.3(CABP2):c.274C>T (p.Arg92Ter)

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