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

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.141+11C>T	rs138411530	0.00620
GRCh37/hg19 Xq22.1(chrX:100604873-100630304)x0
NM_000061.3(BTK):c.1106T>C (p.Leu369Pro)	rs1926524710
NM_000061.3(BTK):c.1840del (p.Leu614fs)
NM_000061.3(BTK):c.1880_1883dup (p.Ile629fs)	rs2147424002
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	rs128621210
NM_000061.3(BTK):c.215del (p.Asn72fs)	rs886041148
NM_000061.3(BTK):c.487del (p.Met163fs)
NM_000061.3(BTK):c.520+15C>T	rs782697907
NM_000061.3(BTK):c.758_767del (p.Arg253fs)
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
NM_000061.3(BTK):c.83G>A (p.Arg28His)	rs128620185

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