ClinVar Miner

List of variants in gene PTPRQ reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.50C>T (p.Thr17Ile) rs60216135 0.09416
NM_001145026.2(PTPRQ):c.5075T>C (p.Ile1692Thr) rs7963963 0.08485
NM_001145026.2(PTPRQ):c.3232G>C (p.Ala1078Pro) rs7975340 0.07692
NM_001145026.2(PTPRQ):c.1292G>A (p.Arg431Gln) rs57971665 0.07599
NM_001145026.2(PTPRQ):c.3040A>G (p.Ile1014Val) rs61729278 0.05179
NM_001145026.2(PTPRQ):c.1104A>G (p.Thr368=) rs61729291 0.03494
NM_001145026.2(PTPRQ):c.98C>T (p.Thr33Ile) rs78857302 0.03016
NM_001145026.2(PTPRQ):c.6263G>A (p.Arg2088Lys) rs1163042 0.01989
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) rs61729287 0.01504
NM_001145026.2(PTPRQ):c.4475A>G (p.Tyr1492Cys) rs61729263 0.01259
NM_001145026.2(PTPRQ):c.2489T>C (p.Val830Ala) rs12579151 0.00981
NM_001145026.2(PTPRQ):c.2125T>C (p.Leu709=) rs77699008 0.00975
NM_001145026.2(PTPRQ):c.4689T>C (p.Ala1563=) rs182230226 0.00827
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=) rs186848048 0.00581
NM_001145026.2(PTPRQ):c.4758C>A (p.Ser1586=) rs141624342 0.00266
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=) rs140978858 0.00198
NM_001145026.2(PTPRQ):c.5191G>A (p.Gly1731Ser) rs1028900450 0.00017
NM_001145026.2(PTPRQ):c.5103C>A (p.Thr1701=) rs1175106700 0.00003
NM_001145026.2(PTPRQ):c.5076T>A (p.Ile1692=) rs745546272 0.00001

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