ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 by 3billion

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter) rs1233145763 0.00001
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016239.4(MYO15A):c.9518-2A>G

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