ClinVar Miner

Variants in gene TSPEAR with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.702C>T (p.Asn234=) rs117791519 0.00468
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_144991.3(TSPEAR):c.1150-20C>T rs202075180 0.00166
NM_144991.3(TSPEAR):c.900C>T (p.Asn300=) rs139106120 0.00154
NM_144991.3(TSPEAR):c.542+14C>T rs200116408 0.00148
NM_144991.3(TSPEAR):c.1755-7C>T rs201717370 0.00135
NM_144991.3(TSPEAR):c.1566+12C>T rs199557392 0.00128
NM_144991.3(TSPEAR):c.415G>A (p.Gly139Ser) rs148095760 0.00126
NM_144991.3(TSPEAR):c.714G>A (p.Ala238=) rs146025689 0.00090
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_144991.3(TSPEAR):c.357C>T (p.Leu119=) rs149493344 0.00046
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_144991.3(TSPEAR):c.411G>A (p.Thr137=) rs140923114 0.00009
NM_144991.3(TSPEAR):c.346C>T (p.Leu116=) rs782700761 0.00006
NM_144991.3(TSPEAR):c.57C>T (p.Gly19=) rs547861049 0.00001
NM_144991.3(TSPEAR):c.72G>A (p.Glu24=) rs541177837 0.00001

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