ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001128228.3(TPRN):c.1743C>T (p.Asn581=) rs146518581 0.00015
NM_001128228.3(TPRN):c.1986G>A (p.Pro662=) rs373509671 0.00004
NM_001128228.3(TPRN):c.1944T>G (p.Ser648=) rs757430065 0.00001
NM_001128228.3(TPRN):c.1996G>A (p.Val666Met) rs876657591 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001128228.3(TPRN):c.1818GGA[11] (p.Glu620_Glu621dup) rs376810326
NM_001128228.3(TPRN):c.2073+10G>A rs368771637

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