ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 0.00347
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) rs1597757405
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) rs1364265842

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