List of variants in gene BTK reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.1475G>A (p.Arg492His)	rs782338603	0.00001
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)	rs1555978024
NM_000061.3(BTK):c.141+3_141+6del	rs1555980866
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	rs128621201
NM_000061.3(BTK):c.1567-2A>T	rs1555977598
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)	rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)	rs1555977592
NM_000061.3(BTK):c.161del (p.Gly54fs)	rs1555980799
NM_000061.3(BTK):c.1630_1631+3delinsGAAA	rs1555977580
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)	rs128621204
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro)	rs1555977461
NM_000061.3(BTK):c.1946del (p.Ser649fs)	rs1555976766
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)	rs1555980049
NM_000061.3(BTK):c.435C>A (p.Cys145Ter)	rs1555978891
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
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.953C>T (p.Ser318Phe)	rs1555978197

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