ClinVar Miner

List of variants reported as uncertain significance for Adams-Oliver syndrome 4 by Invitae

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu) rs140481649 0.00067
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn) rs139168099 0.00031
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr) rs201325214 0.00011
NM_001278689.2(EOGT):c.1129C>T (p.Arg377Trp) rs377612780 0.00010
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser) rs139295083 0.00010
NM_001278689.2(EOGT):c.1114C>T (p.Arg372Trp) rs186870285 0.00003
NM_001278689.2(EOGT):c.1355G>A (p.Arg452His) rs193201126 0.00003
NM_001278689.2(EOGT):c.1387G>A (p.Val463Ile) rs764559304 0.00002
NM_001278689.2(EOGT):c.1411C>T (p.Gln471Ter) rs777402465 0.00002
NM_001278689.2(EOGT):c.334G>A (p.Glu112Lys) rs200038187 0.00002
NM_001278689.2(EOGT):c.587C>T (p.Ser196Phe) rs778686242 0.00002
NM_001278689.2(EOGT):c.1153-3C>T rs1465028816 0.00001
NM_001278689.2(EOGT):c.308G>T (p.Gly103Val) rs778771949 0.00001
NM_001278689.2(EOGT):c.730G>T (p.Val244Phe) rs1386656563 0.00001
NC_000003.11:g.(?_69058768)_(69058997_?)dup
NM_001278689.2(EOGT):c.1152+4A>G
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe) rs2107402281
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=) rs1575701273
NM_001278689.2(EOGT):c.1396A>G (p.Ile466Val)
NM_001278689.2(EOGT):c.1404G>A (p.Trp468Ter) rs1179649831
NM_001278689.2(EOGT):c.1408C>T (p.Arg470Trp)
NM_001278689.2(EOGT):c.1412A>G (p.Gln471Arg)
NM_001278689.2(EOGT):c.1440_1441delinsTT (p.His481Tyr)
NM_001278689.2(EOGT):c.1442A>G (p.His481Arg)
NM_001278689.2(EOGT):c.1443C>A (p.His481Gln)
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)
NM_001278689.2(EOGT):c.1531C>T (p.His511Tyr)
NM_001278689.2(EOGT):c.1534G>A (p.Val512Ile)
NM_001278689.2(EOGT):c.164G>A (p.Arg55Lys)
NM_001278689.2(EOGT):c.202C>G (p.Pro68Ala)
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)
NM_001278689.2(EOGT):c.421-8A>G
NM_001278689.2(EOGT):c.430A>G (p.Ser144Gly)
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu) rs2091407941
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)
NM_001278689.2(EOGT):c.599G>A (p.Arg200His)
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr) rs2091384133
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg) rs766531917
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)
NM_001278689.2(EOGT):c.831+10A>T

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