ClinVar Miner

List of variants reported as benign for Adams-Oliver syndrome 4

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_001278689.2(EOGT):c.465A>G (p.Arg155=) rs6781612 0.31041
NM_001278689.2(EOGT):c.210+5G>A rs56761230 0.26744
NM_001278689.2(EOGT):c.1084-14C>G rs4855540 0.21801
NM_001278689.2(EOGT):c.912T>C (p.Tyr304=) rs13085120 0.15363
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453 0.02119
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860 0.01363
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_001278689.2(EOGT):c.620+17G>A rs144884919 0.00611
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862 0.00337
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031 0.00038
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529 0.00011
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057 0.00001
NM_001278689.2(EOGT):c.1152+10del
NM_001278689.2(EOGT):c.516-18T>C
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)

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