ClinVar Miner

List of variants reported as pathogenic for neurodevelopmental disorder with structural brain anomalies and dysmorphic facies by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005052.3(RAC3):c.182A>T (p.Gln61Leu) rs1568018920
NM_005052.3(RAC3):c.183GGA[1] (p.Glu62del)
NM_005052.3(RAC3):c.184G>A (p.Glu62Lys) rs1064797229
NM_005052.3(RAC3):c.187G>A (p.Asp63Asn) rs2043443828
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys) rs2043443851
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg) rs2043431490
NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) rs1568018697

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