ClinVar Miner

List of variants in gene EOGT reported as pathogenic for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995
NM_001278689.2(EOGT):c.1335-1G>A rs185181819
NM_001278689.2(EOGT):c.311+1G>T rs369583084
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993
NM_001278689.2(EOGT):c.78_81del (p.His27fs) rs771160630

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