ClinVar Miner

List of variants in gene AFF2 reported as uncertain significance for FRAXE intellectual disability

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
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.*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.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.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.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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