ClinVar Miner

List of variants reported for Autosomal recessive nonsyndromic hearing loss 1A by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781

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