ClinVar Miner

List of variants studied for FRAXE intellectual disability by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) rs929635504 0.00001
NM_002025.4(AFF2):c.1738C>T (p.Pro580Ser) rs1410697653 0.00001
GRCh37/hg19 Xq28(chrX:147642893-147870805)
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) rs782268933
NM_002025.4(AFF2):c.2116A>G (p.Lys706Glu) rs2521894142
NM_002025.4(AFF2):c.2330C>T (p.Thr777Ile) rs2521895569
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) rs2072183498

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