ClinVar Miner

List of variants reported as uncertain significance for syndromic intellectual disability by DECIPHERD-UDD, Universidad del Desarrollo

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) rs2067605278
NM_020987.5(ANK3):c.3380C>T (p.Thr1127Met)

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