List of variants in gene BLNK reported as likely benign for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)	rs148612299	0.00489
NM_013314.4(BLNK):c.177C>T (p.Asp59=)	rs140266229	0.00064
NM_013314.4(BLNK):c.759G>A (p.Thr253=)	rs80188740	0.00058
NM_013314.4(BLNK):c.607+15C>T	rs202084402	0.00029
NM_013314.4(BLNK):c.205-15C>T	rs199854336	0.00027
NM_013314.4(BLNK):c.115C>T (p.Leu39=)	rs34135972	0.00026
NM_013314.4(BLNK):c.628A>G (p.Thr210Ala)	rs587687663	0.00025
NM_013314.4(BLNK):c.525+13T>C	rs368519346	0.00024
NM_013314.4(BLNK):c.558T>C (p.Asp186=)	rs145614752	0.00014
NM_013314.4(BLNK):c.315C>A (p.Thr105=)	rs782804653	0.00013
NM_013314.4(BLNK):c.519G>A (p.Glu173=)	rs587660551	0.00008
NM_013314.4(BLNK):c.276T>C (p.Ala92=)	rs782580711	0.00007
NM_013314.4(BLNK):c.775-4A>G	rs368162830	0.00006
NM_013314.4(BLNK):c.24C>T (p.Thr8=)	rs377038501	0.00005
NM_013314.4(BLNK):c.294G>A (p.Pro98=)	rs199560219	0.00005
NM_013314.4(BLNK):c.552T>C (p.Asp184=)	rs151100328	0.00005
NM_013314.4(BLNK):c.113+9G>A	rs782219800	0.00004
NM_013314.4(BLNK):c.288C>T (p.Tyr96=)	rs782558431	0.00004
NM_013314.4(BLNK):c.321G>A (p.Pro107=)	rs782386441	0.00003
NM_013314.4(BLNK):c.677-6G>A	rs369791208	0.00003
NM_013314.4(BLNK):c.747-12T>C	rs782566336	0.00003
NM_013314.4(BLNK):c.108C>A (p.Ile36=)	rs782258239	0.00002
NM_013314.4(BLNK):c.138T>C (p.Ser46=)	rs1554906562	0.00002
NM_013314.4(BLNK):c.156C>T (p.Tyr52=)	rs782546596	0.00002
NM_013314.4(BLNK):c.234C>T (p.His78=)	rs782468809	0.00002
NM_013314.4(BLNK):c.30C>T (p.Pro10=)	rs539394141	0.00002
NM_013314.4(BLNK):c.465C>T (p.Ala155=)	rs782033733	0.00002
NM_013314.4(BLNK):c.540C>T (p.Val180=)	rs781885345	0.00002
NM_013314.4(BLNK):c.651C>T (p.Pro217=)	rs377748729	0.00002
NM_013314.4(BLNK):c.205-4G>T	rs782580639	0.00001
NM_013314.4(BLNK):c.237G>A (p.Ser79=)	rs377027662	0.00001
NM_013314.4(BLNK):c.316A>C (p.Arg106=)	rs369391875	0.00001
NM_013314.4(BLNK):c.333C>T (p.Ala111=)	rs1842316129	0.00001
NM_013314.4(BLNK):c.361+10C>T	rs373205464	0.00001
NM_013314.4(BLNK):c.543C>T (p.Pro181=)	rs147302301	0.00001
NM_013314.4(BLNK):c.608-10T>C	rs781814871	0.00001
NM_013314.4(BLNK):c.648G>A (p.Thr216=)	rs782356586	0.00001
NM_013314.4(BLNK):c.69T>C (p.His23=)	rs782120526	0.00001
NM_013314.4(BLNK):c.747-17C>G	rs1176495438	0.00001
NM_013314.4(BLNK):c.113+10C>T
NM_013314.4(BLNK):c.113+14T>C
NM_013314.4(BLNK):c.114-11G>T
NM_013314.4(BLNK):c.144T>C (p.Pro48=)	rs2134080471
NM_013314.4(BLNK):c.159T>C (p.Ala53=)
NM_013314.4(BLNK):c.163+18T>C
NM_013314.4(BLNK):c.164-15C>T
NM_013314.4(BLNK):c.204+10T>A
NM_013314.4(BLNK):c.204+9T>C
NM_013314.4(BLNK):c.210C>T (p.Ser70=)	rs138625467
NM_013314.4(BLNK):c.24C>A (p.Thr8=)	rs377038501
NM_013314.4(BLNK):c.252C>T (p.Tyr84=)
NM_013314.4(BLNK):c.255G>A (p.Val85=)	rs1842320560
NM_013314.4(BLNK):c.255G>C (p.Val85=)	rs1842320560
NM_013314.4(BLNK):c.264C>G (p.Ala88=)	rs374291940
NM_013314.4(BLNK):c.315C>G (p.Thr105=)
NM_013314.4(BLNK):c.315C>T (p.Thr105=)	rs782804653
NM_013314.4(BLNK):c.334C>T (p.Leu112=)
NM_013314.4(BLNK):c.339C>A (p.Pro113=)
NM_013314.4(BLNK):c.342C>T (p.Phe114=)
NM_013314.4(BLNK):c.361+15A>G	rs2134031482
NM_013314.4(BLNK):c.361+8C>T
NM_013314.4(BLNK):c.361+9C>G
NM_013314.4(BLNK):c.456C>T (p.Thr152=)
NM_013314.4(BLNK):c.48-13T>G
NM_013314.4(BLNK):c.48-18T>A
NM_013314.4(BLNK):c.48-5T>C	rs2134093205
NM_013314.4(BLNK):c.48-9T>A
NM_013314.4(BLNK):c.48-9T>C
NM_013314.4(BLNK):c.525+10_525+11insG
NM_013314.4(BLNK):c.526-13G>A
NM_013314.4(BLNK):c.526-22_526-19del	rs774986411
NM_013314.4(BLNK):c.526-5G>A
NM_013314.4(BLNK):c.526-6T>G	rs1591317634
NM_013314.4(BLNK):c.526-7C>T
NM_013314.4(BLNK):c.526-8T>A
NM_013314.4(BLNK):c.585C>T (p.Ser195=)	rs2134002109
NM_013314.4(BLNK):c.607+13C>T
NM_013314.4(BLNK):c.607+14G>A
NM_013314.4(BLNK):c.608-15_608-14insCG
NM_013314.4(BLNK):c.608-16C>T
NM_013314.4(BLNK):c.608-7G>A	rs2084041337
NM_013314.4(BLNK):c.612C>T (p.Pro204=)
NM_013314.4(BLNK):c.676+9T>C
NM_013314.4(BLNK):c.677-12A>G
NM_013314.4(BLNK):c.677-15T>G
NM_013314.4(BLNK):c.677-16G>A
NM_013314.4(BLNK):c.719C>T (p.Ala240Val)
NM_013314.4(BLNK):c.720T>G (p.Ala240=)
NM_013314.4(BLNK):c.726A>G (p.Pro242=)	rs2133983317
NM_013314.4(BLNK):c.732G>C (p.Pro244=)	rs782456480
NM_013314.4(BLNK):c.746+8C>G
NM_013314.4(BLNK):c.762A>G (p.Thr254=)
NM_013314.4(BLNK):c.775-18T>G
NM_013314.4(BLNK):c.780A>G (p.Pro260=)	rs1554897574
NM_013314.4(BLNK):c.817+16T>C
NM_013314.4(BLNK):c.817+3dup	rs1301850552
NM_013314.4(BLNK):c.81C>T (p.Asn27=)

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