ClinVar Miner

List of variants studied for Adams-Oliver syndrome 4 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001278689.2(EOGT):c.311+1G>T rs369583084 0.00005
NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) rs587776995 0.00002
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr) rs1247059195
NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) rs587776993

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