List of variants in gene BLNK reported as benign for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.48-52T>A	rs2168732	0.81631
NM_013314.4(BLNK):c.361+71G>A	rs11188669	0.58528
NM_013314.4(BLNK):c.48G>A (p.Arg16=)	rs11540858	0.03732
NM_013314.4(BLNK):c.195C>T (p.Ser65=)	rs12261820	0.01993
NM_013314.4(BLNK):c.526-5G>C	rs17111459	0.01232
NM_013314.4(BLNK):c.362-17T>C	rs118063042	0.00879
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)	rs148612299	0.00489
NM_013314.4(BLNK):c.270G>A (p.Glu90=)	rs17111469	0.00302
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr)	rs144903484	0.00175
NM_013314.4(BLNK):c.132T>A (p.Pro44=)	rs147203646	0.00125
NM_013314.4(BLNK):c.744C>T (p.Ala248=)	rs147455437	0.00005
NM_013314.4(BLNK):c.164-9C>T	rs587723501	0.00001
NM_013314.4(BLNK):c.171T>C (p.Pro57=)	rs727852
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.608-22CA[5]	rs200821324
NM_013314.4(BLNK):c.775-12del

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