ClinVar Miner

List of variants in gene TONSL reported by OMIM

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln) rs777654833 0.00004
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) rs1586692058
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) rs1586687279
NM_013432.5(TONSL):c.3559+287_3735+546del
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) rs1586681982
NM_013432.5(TONSL):c.866-1G>C rs1424148372

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