ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.1227-69dup rs34099243 0.88635
NM_014423.4(AFF4):c.2397-37T>C rs11739417 0.21295
NM_014423.4(AFF4):c.3143+20G>A rs45441396 0.15163
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.963+11T>A rs56157864 0.11145
NM_014423.4(AFF4):c.406A>C (p.Thr136Pro) rs34527550 0.01020
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_014423.4(AFF4):c.810G>A (p.Leu270=) rs114858484 0.00920
NM_014423.4(AFF4):c.2397-14G>A rs138999423 0.00554
NM_014423.4(AFF4):c.819G>A (p.Glu273=) rs141383886 0.00480
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu) rs137880283 0.00297
NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala) rs139490054 0.00217
NM_014423.4(AFF4):c.1530C>T (p.Gly510=) rs139523666 0.00121
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 0.00047
NM_014423.4(AFF4):c.339C>T (p.Pro113=) rs143884299 0.00034
NM_014423.4(AFF4):c.919-7T>G rs369449554 0.00033
NM_014423.4(AFF4):c.1051-13T>A rs202109434 0.00030
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.3321C>T (p.Thr1107=) rs745754457 0.00006
NM_014423.4(AFF4):c.1227-11A>G rs746328089 0.00004
NM_014423.4(AFF4):c.783C>T (p.Asp261=) rs200492884 0.00004
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.123+20A>C
NM_014423.4(AFF4):c.124-5dup
NM_014423.4(AFF4):c.777C>T (p.Pro259=)
NM_014423.4(AFF4):c.918+11C>T
NM_014423.4(AFF4):c.963+12dup rs56817345

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