ClinVar Miner

List of variants studied for hearing loss, autosomal dominant 73

Included ClinVar conditions (2):
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Total variants: 22
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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.6299T>G (p.Met2100Arg) rs1330487603 0.00001
NM_001145026.2(PTPRQ):c.1187-27dup rs56351124
NM_001145026.2(PTPRQ):c.1882+16TTG[7] rs58537253
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.3G>A (p.Met1Ile) rs916582229
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.6453+21C>T rs1163041
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288

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