ClinVar Miner

List of variants reported as pathogenic for Ohdo syndrome and variants by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484

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