ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
NM_016239.4(MYO15A):c.8305T>A (p.Trp2769Arg)
NM_138691.3(TMC1):c.1566+4A>G
NM_138691.3(TMC1):c.871del (p.Val291fs)

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