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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 121

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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.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.122G>T (p.Arg41Leu)	rs116007086	0.00262
NM_001278689.2(EOGT):c.1575T>G (p.Asp525Glu)	rs140481649	0.00067
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg)	rs140016031	0.00038
NM_001278689.2(EOGT):c.50G>A (p.Ser17Asn)	rs139168099	0.00031
NM_001278689.2(EOGT):c.516-9A>G	rs374408350	0.00021
NM_001278689.2(EOGT):c.591A>G (p.Glu197=)	rs576952007	0.00014
NM_001278689.2(EOGT):c.300C>T (p.Val100=)	rs371677485	0.00011
NM_001278689.2(EOGT):c.305T>C (p.Met102Thr)	rs201325214	0.00011
NM_001278689.2(EOGT):c.816C>T (p.Ile272=)	rs554241529	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.421-7C>T	rs770810315	0.00009
NM_001278689.2(EOGT):c.624T>C (p.Phe208=)	rs371892977	0.00006
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.515+7T>A	rs764750079	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.1305C>T (p.Phe435=)	rs527394057	0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=)	rs750519290	0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=)	rs778355816	0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=)	rs771945573	0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=)	rs1575699109	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
NM_001278689.2(EOGT):c.831+2T>C	rs1559604548	0.00001
NC_000003.11:g.(?_69058768)_(69058997_?)dup
NM_001278689.2(EOGT):c.1084-8G>T
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)
NM_001278689.2(EOGT):c.1152+10del
NM_001278689.2(EOGT):c.1152+4A>G
NM_001278689.2(EOGT):c.1153-17T>G
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)
NM_001278689.2(EOGT):c.118A>T (p.Ile40Phe)	rs2107402281
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=)	rs981266167
NM_001278689.2(EOGT):c.1214+16T>C
NM_001278689.2(EOGT):c.1215-18T>G
NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)
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.1437+11A>G
NM_001278689.2(EOGT):c.1437+15C>G
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.1446T>C (p.His482=)
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)
NM_001278689.2(EOGT):c.1460A>G (p.Glu487Gly)
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)
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.210+10A>C	rs1410315129
NM_001278689.2(EOGT):c.211-9A>G
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)
NM_001278689.2(EOGT):c.280T>C (p.Tyr94His)
NM_001278689.2(EOGT):c.293G>A (p.Ser98Asn)
NM_001278689.2(EOGT):c.300C>G (p.Val100=)
NM_001278689.2(EOGT):c.305T>A (p.Met102Lys)
NM_001278689.2(EOGT):c.311+12del
NM_001278689.2(EOGT):c.312-10T>C	rs1559615651
NM_001278689.2(EOGT):c.312-20A>G
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)
NM_001278689.2(EOGT):c.350A>G (p.Lys117Arg)
NM_001278689.2(EOGT):c.404G>C (p.Cys135Ser)
NM_001278689.2(EOGT):c.421-16T>A
NM_001278689.2(EOGT):c.421-19T>C
NM_001278689.2(EOGT):c.421-6C>T
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.45A>C (p.Ser15=)
NM_001278689.2(EOGT):c.469A>G (p.Thr157Ala)
NM_001278689.2(EOGT):c.471C>A (p.Thr157=)	rs560607406
NM_001278689.2(EOGT):c.495C>T (p.Asn165=)
NM_001278689.2(EOGT):c.515+17T>C
NM_001278689.2(EOGT):c.516-18T>C
NM_001278689.2(EOGT):c.516-23_516-19del	rs373543747
NM_001278689.2(EOGT):c.516-8T>C
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)
NM_001278689.2(EOGT):c.599G>A (p.Arg200His)
NM_001278689.2(EOGT):c.616T>A (p.Ser206Thr)	rs2091384133
NM_001278689.2(EOGT):c.618A>T (p.Ser206=)	rs373952598
NM_001278689.2(EOGT):c.620+16C>T
NM_001278689.2(EOGT):c.620+19A>T
NM_001278689.2(EOGT):c.621-14A>T
NM_001278689.2(EOGT):c.621-14del
NM_001278689.2(EOGT):c.621-2A>T
NM_001278689.2(EOGT):c.647A>G (p.Gln216Arg)
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)
NM_001278689.2(EOGT):c.701C>A (p.Pro234Gln)
NM_001278689.2(EOGT):c.701C>G (p.Pro234Arg)	rs766531917
NM_001278689.2(EOGT):c.727+16T>G
NM_001278689.2(EOGT):c.728-7A>C
NM_001278689.2(EOGT):c.754G>A (p.Asp252Asn)
NM_001278689.2(EOGT):c.78_81del (p.His27fs)	rs771160630
NM_001278689.2(EOGT):c.79C>T (p.His27Tyr)
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
NM_001278689.2(EOGT):c.831+10A>T
NM_001278689.2(EOGT):c.831+19T>A
NM_001278689.2(EOGT):c.831+1G>A

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