ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 98 by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_198699.1(KRTAP10-12):c.248C>T (p.Ser83Leu) rs200497262 0.00024
NM_144991.3(TSPEAR):c.303+9641C>A rs374354141

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