ClinVar Miner

List of variants in gene TONSL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_013432.5(TONSL):c.3870C>T (p.Ser1290=) rs34999346 0.00776
NM_013432.5(TONSL):c.1767C>T (p.Asp589=) rs147487703 0.00407
NM_013432.5(TONSL):c.885G>A (p.Leu295=) rs147397546 0.00210
NM_013432.5(TONSL):c.3514A>G (p.Ser1172Gly) rs147517862 0.00163
NM_013432.5(TONSL):c.1413G>A (p.Ala471=) rs142414219 0.00140
NM_013432.5(TONSL):c.3513C>T (p.Pro1171=) rs139402752 0.00091
NM_013432.5(TONSL):c.2247C>T (p.Ser749=) rs140799312 0.00021
NM_013432.5(TONSL):c.933G>A (p.Met311Ile) rs762247306 0.00005
NM_013432.5(TONSL):c.3831A>G (p.Ser1277=) rs1416947149 0.00002
NM_013432.5(TONSL):c.1200C>T (p.Arg400=)

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