ClinVar Miner

List of variants in gene BTK reported as uncertain significance for not provided

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.391+333T>C rs1339680331 0.00018
NM_000061.3(BTK):c.*101del rs1385972271 0.00001
NM_000061.3(BTK):c.100G>A (p.Val34Met) rs141488935 0.00001
NM_000061.3(BTK):c.142-8C>T rs782365356 0.00001
NM_000061.3(BTK):c.1823A>G (p.Glu608Gly) rs781930404 0.00001
NM_000061.3(BTK):c.572C>T (p.Thr191Met) rs1555978785 0.00001
NM_000061.3(BTK):c.1567-12_1567-9del rs1569291244
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys) rs1603001680
NM_000061.3(BTK):c.337G>A (p.Val113Ile) rs2147443453
NM_000061.3(BTK):c.359T>C (p.Leu120Pro) rs1555980053
NM_000061.3(BTK):c.589-7T>G rs2147433286
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+7G>A rs886044875

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