ClinVar Miner

List of variants in gene PTPRQ reported as uncertain significance for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001145026.2(PTPRQ):c.73G>A (p.Val25Ile) rs949379148 0.00003
NM_001145026.2(PTPRQ):c.125C>T (p.Thr42Ile) rs1462946656 0.00001
NM_001145026.2(PTPRQ):c.185T>G (p.Leu62Arg)
NM_001145026.2(PTPRQ):c.242A>T (p.Asn81Ile) rs2541516559
NM_001145026.2(PTPRQ):c.79G>C (p.Gly27Arg) rs1397975118

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