ClinVar Miner

List of variants in gene AFF2 studied for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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AFF2, 121- to 145-KB DEL
GRCh37/hg19 Xq28(chrX:147642893-147870805)
NM_002025.4(AFF2):c.*4554C>G rs864321652
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) rs200450195
NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283
NM_002025.4(AFF2):c.3267+5G>A rs374064624

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