ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 89 by Department of Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)	rs397514746	0.00001
NM_005548.3(KARS1):c.433T>C (p.Tyr145His)	rs397514745	0.00001

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