ClinVar Miner

List of variants in gene PTPRQ reported as uncertain significance for hearing loss, autosomal dominant 73

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg) rs1330487603 0.00001
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) rs1275679740
NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288

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