ClinVar Miner

List of variants in gene PPP2R5D reported as likely benign for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu) rs957822115 0.00001
NM_006245.4(PPP2R5D):c.437G>C (p.Arg146Pro) rs2150278481

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