ClinVar Miner

List of variants in gene ASXL3 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) rs143578678 0.00217
NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg) rs61729759 0.00051
NM_030632.3(ASXL3):c.2396C>T (p.Ser799Phe) rs571784431 0.00022
NM_030632.3(ASXL3):c.2349A>T (p.Lys783Asn) rs371155056 0.00019
NM_030632.3(ASXL3):c.3892A>G (p.Lys1298Glu) rs368481682 0.00018
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) rs199888171 0.00013
NM_030632.3(ASXL3):c.419C>T (p.Ala140Val) rs769668170 0.00010
NM_030632.3(ASXL3):c.1621G>A (p.Asp541Asn) rs199508275 0.00008
NM_030632.3(ASXL3):c.4060T>C (p.Ser1354Pro) rs866566658 0.00006
NM_030632.3(ASXL3):c.4538C>G (p.Pro1513Arg) rs749918007 0.00004
NM_030632.3(ASXL3):c.3970C>A (p.Leu1324Ile) rs779242111 0.00002
NM_030632.3(ASXL3):c.2375C>T (p.Pro792Leu) rs555695471 0.00001
NM_030632.3(ASXL3):c.1245G>T (p.Glu415Asp) rs369775948
NM_030632.3(ASXL3):c.1271del (p.Pro424fs)
NM_030632.3(ASXL3):c.1316C>G (p.Ser439Ter) rs2067592710
NM_030632.3(ASXL3):c.1332C>G (p.Ile444Met)
NM_030632.3(ASXL3):c.1343C>A (p.Ser448Tyr)
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) rs1555742087
NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly)
NM_030632.3(ASXL3):c.1389_1390del (p.Cys463_Glu464delinsTer) rs2067594520
NM_030632.3(ASXL3):c.1418T>G (p.Ile473Arg)
NM_030632.3(ASXL3):c.1454A>C (p.Asn485Thr)
NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs) rs2067597366
NM_030632.3(ASXL3):c.1519G>C (p.Asp507His)
NM_030632.3(ASXL3):c.1589T>C (p.Met530Thr)
NM_030632.3(ASXL3):c.1591A>G (p.Thr531Ala)
NM_030632.3(ASXL3):c.1612G>T (p.Glu538Ter) rs2067601254
NM_030632.3(ASXL3):c.1678G>A (p.Glu560Lys)
NM_030632.3(ASXL3):c.1781T>C (p.Leu594Pro)
NM_030632.3(ASXL3):c.1802dup (p.Leu602fs) rs2067607133
NM_030632.3(ASXL3):c.1841C>T (p.Ser614Phe)
NM_030632.3(ASXL3):c.1918T>C (p.Cys640Arg)
NM_030632.3(ASXL3):c.1924C>T (p.Pro642Ser)
NM_030632.3(ASXL3):c.1957G>A (p.Val653Ile)
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.2240C>T (p.Pro747Leu)
NM_030632.3(ASXL3):c.2278A>G (p.Ile760Val)
NM_030632.3(ASXL3):c.227C>T (p.Ser76Leu)
NM_030632.3(ASXL3):c.2402A>G (p.Gln801Arg)
NM_030632.3(ASXL3):c.2489A>G (p.Asn830Ser)
NM_030632.3(ASXL3):c.2681G>T (p.Gly894Val)
NM_030632.3(ASXL3):c.2722A>G (p.Ile908Val)
NM_030632.3(ASXL3):c.2807C>T (p.Thr936Ile)
NM_030632.3(ASXL3):c.2876C>T (p.Ser959Leu)
NM_030632.3(ASXL3):c.2951A>G (p.Asp984Gly)
NM_030632.3(ASXL3):c.29G>A (p.Arg10His)
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3039+2T>A rs1555743005
NM_030632.3(ASXL3):c.3095A>G (p.Lys1032Arg)
NM_030632.3(ASXL3):c.3122C>T (p.Thr1041Ile)
NM_030632.3(ASXL3):c.3130A>G (p.Ser1044Gly)
NM_030632.3(ASXL3):c.3193C>T (p.Arg1065Trp)
NM_030632.3(ASXL3):c.3287C>T (p.Thr1096Met)
NM_030632.3(ASXL3):c.3305T>A (p.Ile1102Asn)
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) rs2067694467
NM_030632.3(ASXL3):c.3332_3333del (p.Phe1111fs) rs2067695073
NM_030632.3(ASXL3):c.3527G>A (p.Arg1176Gln)
NM_030632.3(ASXL3):c.3632A>C (p.His1211Pro)
NM_030632.3(ASXL3):c.364A>C (p.Lys122Gln)
NM_030632.3(ASXL3):c.3704C>A (p.Ser1235Tyr)
NM_030632.3(ASXL3):c.3733A>G (p.Ile1245Val)
NM_030632.3(ASXL3):c.3799G>C (p.Val1267Leu)
NM_030632.3(ASXL3):c.3829T>C (p.Cys1277Arg)
NM_030632.3(ASXL3):c.3975A>G (p.Ile1325Met)
NM_030632.3(ASXL3):c.3976T>C (p.Ser1326Pro)
NM_030632.3(ASXL3):c.4080T>G (p.Ile1360Met)
NM_030632.3(ASXL3):c.4132G>C (p.Gly1378Arg)
NM_030632.3(ASXL3):c.4211C>T (p.Thr1404Ile)
NM_030632.3(ASXL3):c.4265C>A (p.Thr1422Lys)
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4531G>C (p.Val1511Leu)
NM_030632.3(ASXL3):c.4618A>G (p.Ile1540Val)
NM_030632.3(ASXL3):c.4658C>T (p.Pro1553Leu)
NM_030632.3(ASXL3):c.4687C>T (p.Pro1563Ser)
NM_030632.3(ASXL3):c.4696C>T (p.Pro1566Ser)
NM_030632.3(ASXL3):c.4751G>A (p.Arg1584His)
NM_030632.3(ASXL3):c.4754G>A (p.Gly1585Asp)
NM_030632.3(ASXL3):c.4905G>C (p.Glu1635Asp)
NM_030632.3(ASXL3):c.5009C>G (p.Ser1670Cys)
NM_030632.3(ASXL3):c.5074C>T (p.Pro1692Ser)
NM_030632.3(ASXL3):c.5111A>G (p.Gln1704Arg)
NM_030632.3(ASXL3):c.5177C>G (p.Ala1726Gly)
NM_030632.3(ASXL3):c.5183A>T (p.Lys1728Met)
NM_030632.3(ASXL3):c.520A>G (p.Met174Val)
NM_030632.3(ASXL3):c.5363G>A (p.Gly1788Asp)
NM_030632.3(ASXL3):c.5423A>C (p.Lys1808Thr)
NM_030632.3(ASXL3):c.5516C>T (p.Thr1839Ile)
NM_030632.3(ASXL3):c.5584A>G (p.Ser1862Gly)
NM_030632.3(ASXL3):c.5623A>T (p.Lys1875Ter) rs2067763918
NM_030632.3(ASXL3):c.6098C>T (p.Pro2033Leu)
NM_030632.3(ASXL3):c.6107C>T (p.Pro2036Leu)
NM_030632.3(ASXL3):c.6110C>A (p.Pro2037Gln)
NM_030632.3(ASXL3):c.6119C>T (p.Pro2040Leu)
NM_030632.3(ASXL3):c.6122T>C (p.Leu2041Pro)
NM_030632.3(ASXL3):c.613G>A (p.Gly205Ser)
NM_030632.3(ASXL3):c.6205T>G (p.Trp2069Gly)
NM_030632.3(ASXL3):c.6589G>A (p.Val2197Ile)
NM_030632.3(ASXL3):c.6612C>A (p.Ser2204Arg)
NM_030632.3(ASXL3):c.6616G>A (p.Ala2206Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.