ClinVar Miner

List of variants in gene combination DUPD1, KAT6B reported as uncertain significance for Ohdo syndrome and variants

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061

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