ClinVar Miner

List of variants reported as likely pathogenic by Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_001368894.2(PAX6):c.1075-3C>G rs886044223
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu) rs1592563636
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val) rs1592563636
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del) rs1592562717
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser) rs1592562910
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe) rs1592562836
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro) rs1592545972
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg) rs759557055
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro) rs769095184
NM_001368894.2(PAX6):c.375C>A (p.Val125=) rs1592542705
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del) rs1592542273
NM_001368894.2(PAX6):c.399+5G>A rs1592542002
NM_001368894.2(PAX6):c.425G>A (p.Arg142His) rs1592531953
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) rs1592531953
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys) rs1388158419
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala) rs1592564366
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001368894.2(PAX6):c.723A>G (p.Lys241=) rs1592433022
NM_001368894.2(PAX6):c.725-5T>C rs1592421981
NM_001368894.2(PAX6):c.725-9C>G rs1592422097
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) rs121907913
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val) rs1592563721
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro) rs1596813665
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu) rs1596812290
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro) rs778448390
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr) rs1596805927
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg) rs1596805792
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) rs1559922647
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) rs1057516142
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp) rs1559922634
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) rs1315073489
NM_023067.4(FOXL2):c.193A>G (p.Met65Val) rs1559922621
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro) rs1559922577
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile) rs1559922558
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg) rs1226344391
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) rs1559922528
NM_023067.4(FOXL2):c.311A>G (p.His104Arg) rs1057516153
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del) rs1559922498
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527

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