ClinVar Miner

List of variants in gene PTPRQ studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly)
NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn)
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) rs368946018
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) rs10778752
NM_001145026.2(PTPRQ):c.2546C>T (p.Thr849Met)
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile)
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter)
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=)
NM_001145026.2(PTPRQ):c.6327+1G>A rs1592779077
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.6883G>A (p.Glu2295Lys)
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549

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