ClinVar Miner

List of variants in gene BTK reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1064T>A (p.Ile355Asn) rs1057517709
NM_000061.3(BTK):c.1103G>A (p.Gly368Glu) rs1057517710
NM_000061.3(BTK):c.1185G>A (p.Trp395Ter) rs1064796836
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) rs1555980875
NM_000061.3(BTK):c.1489C>T (p.Gln497Ter) rs1555977811
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.1580G>C (p.Cys527Ser) rs1057520578
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1632-2A>G rs886039555
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.307C>T (p.Gln103Ter) rs886039657
NM_000061.3(BTK):c.41C>A (p.Ser14Tyr) rs1057520682
NM_000061.3(BTK):c.469C>T (p.Gln157Ter) rs886041473
NM_000061.3(BTK):c.46C>T (p.Gln16Ter) rs1555980888
NM_000061.3(BTK):c.669T>A (p.Tyr223Ter) rs1057520612
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.894+1G>A rs1064793859

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