ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 84A by WangQJ Lab, Chinese People's Liberation Army General Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00025
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243

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