ClinVar Miner

List of variants studied for Ohdo syndrome and variants by GeneReviews

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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.2299C>T (p.His767Tyr)
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484

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