ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=)
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=)
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu)
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=)
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=)
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=)
NM_001278689.2(EOGT):c.176C>G (p.Thr59Ser)
NM_001278689.2(EOGT):c.455A>T (p.Gln152Leu)
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473
NM_001278689.2(EOGT):c.563A>T (p.Lys188Ile) rs116138787
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg)
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086
NM_001278689.2(EOGT):c.816C>T (p.Ile272=)
NM_001278689.2(EOGT):c.831+2T>C rs1559604548

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