ClinVar Miner

List of variants in gene PTPRQ reported as pathogenic for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414 0.00006
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184 0.00003
NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) rs1896318374
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549

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