ClinVar Miner

List of variants in gene TPRN reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001128228.3(TPRN):c.1906C>T (p.Arg636Trp) rs145556855 0.00048
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001128228.3(TPRN):c.1742A>G (p.Asn581Ser) rs773521640 0.00001
NM_001128228.3(TPRN):c.1730_1732del (p.Lys577del) rs769707569
NM_001128228.3(TPRN):c.2074-5T>C rs1564383004
NM_001128228.3(TPRN):c.2083G>A (p.Ala695Thr) rs876658034

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