ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 8 by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)	rs181949335	0.00019
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	rs727503493

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