List of variants in gene AFF4 reported as benign for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_014423.4(AFF4):c.1227-69dup	rs34099243	0.88012
NM_014423.4(AFF4):c.2397-37T>C	rs11739417	0.21295
NM_014423.4(AFF4):c.3143+20G>A	rs45441396	0.14771
NM_014423.4(AFF4):c.963+11T>A	rs56157864	0.11503
NM_014423.4(AFF4):c.2007C>T (p.Pro669=)	rs739863	0.11172
NM_014423.4(AFF4):c.1051-55A>G	rs12517073	0.11170
NM_014423.4(AFF4):c.3144-52T>A	rs997633	0.11168
NM_014423.4(AFF4):c.406A>C (p.Thr136Pro)	rs34527550	0.00952
NM_014423.4(AFF4):c.2892A>G (p.Lys964=)	rs34434281	0.00931
NM_014423.4(AFF4):c.810G>A (p.Leu270=)	rs114858484	0.00856
NM_014423.4(AFF4):c.2397-14G>A	rs138999423	0.00548
NM_014423.4(AFF4):c.819G>A (p.Glu273=)	rs141383886	0.00450
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu)	rs137880283	0.00309
NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala)	rs139490054	0.00217
NM_014423.4(AFF4):c.1530C>T (p.Gly510=)	rs139523666	0.00108
NM_014423.4(AFF4):c.3000A>G (p.Val1000=)	rs141975451	0.00091
NM_014423.4(AFF4):c.2308-13A>G	rs189344130	0.00081
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr)	rs141068875	0.00073
NM_014423.4(AFF4):c.1389+12G>T	rs201228351	0.00050
NM_014423.4(AFF4):c.918+11C>T	rs746211392	0.00037
NM_014423.4(AFF4):c.339C>T (p.Pro113=)	rs143884299	0.00034
NM_014423.4(AFF4):c.1051-13T>A	rs202109434	0.00030
NM_014423.4(AFF4):c.919-7T>G	rs369449554	0.00029
NM_014423.4(AFF4):c.1401G>A (p.Pro467=)	rs138376057	0.00010
NM_014423.4(AFF4):c.2445C>T (p.Pro815=)	rs138116584	0.00010
NM_014423.4(AFF4):c.2529A>G (p.Ser843=)	rs201355729	0.00009
NM_014423.4(AFF4):c.783C>T (p.Asp261=)	rs200492884	0.00007
NM_014423.4(AFF4):c.3321C>T (p.Thr1107=)	rs745754457	0.00006
NM_014423.4(AFF4):c.1227-11A>G	rs746328089	0.00004
NM_014423.4(AFF4):c.777C>T (p.Pro259=)	rs200345107	0.00004
NM_014423.4(AFF4):c.123+20A>C	rs753939095	0.00001
NM_014423.4(AFF4):c.1968T>C (p.Ser656=)	rs192660791	0.00001
NM_014423.4(AFF4):c.1051-17A>C	rs55844143
NM_014423.4(AFF4):c.1087+12_1087+15del	rs530898028
NM_014423.4(AFF4):c.1227-99del	rs34333760
NM_014423.4(AFF4):c.124-5dup	rs754989772
NM_014423.4(AFF4):c.2007C>G (p.Pro669=)
NM_014423.4(AFF4):c.963+12dup	rs56817345

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