ClinVar Miner

List of variants in gene PTPRQ studied for auditory system disorder

Included ClinVar conditions (322):
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.1187-38T>A rs7311413 0.86872
NM_001145026.2(PTPRQ):c.2272+15_2272+16insG rs56929349 0.85402
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) rs10778752 0.84044
NM_001145026.2(PTPRQ):c.3155-34A>T rs11114502 0.54055
NM_001145026.2(PTPRQ):c.2505C>G (p.Leu835=) rs12824064 0.52337
NM_001145026.2(PTPRQ):c.2371C>A (p.Gln791Lys) rs11114486 0.49400
NM_001145026.2(PTPRQ):c.5943-6T>C rs1528289 0.08370
NM_001145026.2(PTPRQ):c.6115+23_6115+24dup rs10652830 0.06545
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=) rs185755490 0.00640
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His) rs61729273 0.00354
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser) rs199746225 0.00034
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414 0.00006
NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly) rs1245108213 0.00005
NM_001145026.2(PTPRQ):c.2546C>T (p.Thr849Met) rs974503422 0.00005
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184 0.00003
NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=) rs1238341806 0.00001
NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg) rs1330487603 0.00001
NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn) rs2120546591
NM_001145026.2(PTPRQ):c.1187-27dup rs56351124
NM_001145026.2(PTPRQ):c.1291C>T (p.Arg431Ter)
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) rs368946018
NM_001145026.2(PTPRQ):c.1882+16TTG[7] rs58537253
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter) rs948217913
NM_001145026.2(PTPRQ):c.2726del (p.Glu909fs)
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001145026.2(PTPRQ):c.3308_3309del (p.Leu1103fs)
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile) rs916582229
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) rs1896318374
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) rs1275679740
NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)
NM_001145026.2(PTPRQ):c.6024+2T>C rs2121223982
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6194_6453+1del rs2121280782
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6453+21C>T rs1163041
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
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) rs2121305975
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549

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