ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_144991.3(TSPEAR):c.1335A>G (p.Glu445=) rs200789378 0.00029
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_144991.3(TSPEAR):c.1185G>T (p.Glu395Asp) rs143303485 0.00024
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_144991.3(TSPEAR):c.673G>A (p.Ala225Thr) rs146216896 0.00008
NM_144991.3(TSPEAR):c.1079A>G (p.Lys360Arg) rs375829414 0.00004
NM_144991.3(TSPEAR):c.1937C>T (p.Thr646Met) rs782251764 0.00003
NM_144991.3(TSPEAR):c.608G>A (p.Arg203Gln) rs781964053 0.00002
NM_144991.3(TSPEAR):c.1786G>A (p.Glu596Lys) rs782790512 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_144991.3(TSPEAR):c.81A>C (p.Thr27=) rs149709159 0.00001
NM_144991.3(TSPEAR):c.131C>T (p.Ala44Val) rs145231394
NM_144991.3(TSPEAR):c.1372T>G (p.Trp458Gly) rs782168687
NM_144991.3(TSPEAR):c.1493G>A (p.Gly498Asp) rs782040120
NM_144991.3(TSPEAR):c.1864G>A (p.Gly622Ser) rs876658039
NM_144991.3(TSPEAR):c.1925C>G (p.Ala642Gly) rs782299333

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