ClinVar Miner

List of variants in gene ASXL1 reported as likely benign for Bohring-Opitz syndrome

Included ClinVar conditions (1):
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Total variants: 39
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HGVS dbSNP
NM_001164603.1(ASXL1):c.-282C>T rs530763476
NM_001164603.1(ASXL1):c.16_18AAG[3] (p.Lys9del) rs752094508
NM_001164603.1(ASXL1):c.252+11T>C rs143337375
NM_015338.5(ASXL1):c.*1016C>T rs574597562
NM_015338.5(ASXL1):c.*1580T>C rs141465097
NM_015338.5(ASXL1):c.*1687C>T rs551790630
NM_015338.5(ASXL1):c.*1813C>T rs41289854
NM_015338.5(ASXL1):c.*1814G>A rs568052637
NM_015338.5(ASXL1):c.*1970G>A rs117307643
NM_015338.5(ASXL1):c.*285G>C rs55805951
NM_015338.5(ASXL1):c.*548G>C rs41289852
NM_015338.5(ASXL1):c.*682G>A rs189281556
NM_015338.5(ASXL1):c.*78A>G rs529026401
NM_015338.5(ASXL1):c.*87A>G rs184265056
NM_015338.5(ASXL1):c.1929G>T (p.Gly643=) rs373998853
NM_015338.5(ASXL1):c.1965C>T (p.Thr655=) rs79865730
NM_015338.5(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.5(ASXL1):c.2337T>G (p.Pro779=) rs143613684
NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454
NM_015338.5(ASXL1):c.2419G>A (p.Val807Ile) rs138624526
NM_015338.5(ASXL1):c.2432A>G (p.Asn811Ser) rs758473430
NM_015338.5(ASXL1):c.2526T>C (p.Asn842=) rs144841799
NM_015338.5(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.5(ASXL1):c.2802T>C (p.Ala934=) rs571165637
NM_015338.5(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837
NM_015338.5(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525
NM_015338.5(ASXL1):c.3212C>T (p.Ala1071Val) rs531415735
NM_015338.5(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934
NM_015338.5(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062
NM_015338.5(ASXL1):c.3513G>A (p.Arg1171=) rs150391716
NM_015338.5(ASXL1):c.3612C>G (p.Cys1204Trp) rs201397030
NM_015338.5(ASXL1):c.374-9C>T rs6087903
NM_015338.5(ASXL1):c.3745A>G (p.Met1249Val) rs146141075
NM_015338.5(ASXL1):c.3776C>T (p.Pro1259Leu) rs201338763
NM_015338.5(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203
NM_015338.5(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.5(ASXL1):c.4098C>T (p.Ser1366=) rs143041800
NM_015338.5(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648
NM_015338.5(ASXL1):c.502A>T (p.Met168Leu) rs200503314

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