List of variants in gene BLK reported as uncertain significance for digestive 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: 49

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HGVS	dbSNP	gnomAD frequency
NM_001715.3(BLK):c.*209C>G	rs544690947	0.00017
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)	rs199605698	0.00015
NM_001715.3(BLK):c.809C>T (p.Thr270Met)	rs368427116	0.00011
NM_001715.3(BLK):c.*229G>C	rs1045306871	0.00010
NM_001715.3(BLK):c.139C>G (p.Leu47Val)	rs202045056	0.00010
NM_001715.3(BLK):c.620-11C>T	rs764915190	0.00009
NM_001715.3(BLK):c.*324G>A	rs886062600	0.00006
NM_001715.3(BLK):c.*376C>T	rs886062601	0.00005
NM_001715.3(BLK):c.153G>A (p.Pro51=)	rs746710451	0.00004
NM_001715.3(BLK):c.639C>T (p.Cys213=)	rs779263158	0.00004
NM_001715.3(BLK):c.810G>A (p.Thr270=)	rs749767699	0.00004
NM_001715.3(BLK):c.1089G>A (p.Ala363=)	rs55836779	0.00003
NM_001715.3(BLK):c.154C>A (p.Pro52Thr)	rs375173243	0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg)	rs202053568	0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)	rs574731221	0.00003
NM_001715.3(BLK):c.41C>T (p.Pro14Leu)	rs769734763	0.00002
NM_001715.3(BLK):c.571C>A (p.Pro191Thr)	rs769895420	0.00002
NM_001715.3(BLK):c.773-9C>T	rs772158649	0.00002
NM_001715.3(BLK):c.*366G>A	rs977140703	0.00001
NM_001715.3(BLK):c.*461G>A	rs1204192053	0.00001
NM_001715.3(BLK):c.1046C>T (p.Ala349Val)	rs759976637	0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)	rs142803179	0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met)	rs373565757	0.00001
NM_001715.3(BLK):c.1308C>T (p.Tyr436=)	rs886062596	0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro)	rs551088779	0.00001
NM_001715.3(BLK):c.892C>T (p.Arg298Ter)	rs745877998	0.00001
NM_001715.2(BLK):c.*500G>T	rs767723868
NM_001715.3(BLK):c.*130G>T	rs576749814
NM_001715.3(BLK):c.*161C>G	rs886062597
NM_001715.3(BLK):c.*182del	rs570307048
NM_001715.3(BLK):c.*214C>T	rs1585428580
NM_001715.3(BLK):c.*271G>A	rs1343284509
NM_001715.3(BLK):c.*289G>A	rs886062599
NM_001715.3(BLK):c.*42A>G	rs759997593
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)	rs886062595
NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)
NM_001715.3(BLK):c.1208C>T (p.Ala403Val)	rs139210041
NM_001715.3(BLK):c.129C>A (p.Val43=)	rs377568491
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
NM_001715.3(BLK):c.1374C>T (p.Asp458=)	rs376977643
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)	rs1171913284
NM_001715.3(BLK):c.311G>T (p.Arg104Ile)	rs142298864
NM_001715.3(BLK):c.712C>T (p.Arg238Trp)	rs575123730
NM_001715.3(BLK):c.824C>T (p.Thr275Ile)	rs748444664
NM_001715.3(BLK):c.84C>A (p.Val28=)	rs1585387563
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
NM_001715.3(BLK):c.952G>A (p.Gly318Arg)
NM_001715.3(BLK):c.956G>T (p.Cys319Phe)	rs1563123027

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