ClinVar Miner

List of variants in gene AFF2 studied for FRAXE intellectual disability

Included ClinVar conditions (1):
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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_002025.4(AFF2):c.3623+57G>A rs12688573 0.56066
NM_002025.4(AFF2):c.1041+56456A>G rs241084 0.33601
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) rs12011040 0.14855
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) rs376847375 0.00012
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195 0.00003
NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn) rs1029815702 0.00003
NM_002025.4(AFF2):c.3267+5G>A rs374064624 0.00003
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) rs371160275 0.00001
NM_002025.4(AFF2):c.2558G>A (p.Arg853His) rs782648832 0.00001
NM_002025.4(AFF2):c.2614G>C (p.Glu872Gln) rs2072067846 0.00001
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met) rs969709894 0.00001
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn) rs781968104 0.00001
NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) rs781818996 0.00001
GRCh37/hg19 Xq28(chrX:147458752-147628024)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
NG_016313.2:g.(5527_156380)_(156514_166289)del
NM_002025.4(AFF2):c.*4554C>G rs864321652
NM_002025.4(AFF2):c.1012C>A (p.Pro338Thr)
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) rs929635504
NM_002025.4(AFF2):c.1292G>A (p.Ser431Asn)
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) rs782268933
NM_002025.4(AFF2):c.1558-78G>C rs16994868
NM_002025.4(AFF2):c.1735G>A (p.Val579Ile)
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser)
NM_002025.4(AFF2):c.2009G>A (p.Arg670His) rs1569557647
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu)
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile)
NM_002025.4(AFF2):c.2637G>T (p.Leu879Phe)
NM_002025.4(AFF2):c.2820C>A (p.Asp940Glu)
NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr) rs1212059076
NM_002025.4(AFF2):c.2914-15C>A rs1204837598
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) rs2072183498
NM_002025.4(AFF2):c.3017T>C (p.Val1006Ala)
NM_002025.4(AFF2):c.3074C>T (p.Thr1025Ile)
NM_002025.4(AFF2):c.3163A>G (p.Ser1055Gly)
NM_002025.4(AFF2):c.3242A>G (p.Lys1081Arg)
NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter) rs2124413117
NM_002025.4(AFF2):c.412C>G (p.Pro138Ala)
NM_002025.4(AFF2):c.48-60738G>C rs2124372407
NM_002025.4(AFF2):c.511G>T (p.Ala171Ser)
NM_002025.4(AFF2):c.853C>A (p.Pro285Thr)

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