ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 77 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_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861

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