ClinVar Miner

List of variants studied for ASXL3-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.4036A>G (p.Ile1346Val) rs61995734 0.02849
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) rs143855418 0.00536
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) rs143578678 0.00217
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr) rs117661115 0.00208
NM_030632.3(ASXL3):c.2583A>T (p.Ile861=) rs61734123 0.00166
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) rs190659120 0.00134
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_030632.3(ASXL3):c.2193G>A (p.Val731=) rs61978635 0.00089
NM_030632.3(ASXL3):c.3391C>T (p.Pro1131Ser) rs189035129 0.00082
NM_030632.3(ASXL3):c.621A>T (p.Ala207=) rs201134613 0.00072
NM_030632.3(ASXL3):c.3124T>C (p.Ser1042Pro) rs201364738 0.00070
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=) rs371181408 0.00059
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_030632.3(ASXL3):c.2537A>G (p.Lys846Arg) rs61729759 0.00051
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu) rs189786599 0.00034
NM_030632.3(ASXL3):c.990A>G (p.Pro330=) rs375974767 0.00034
NM_030632.3(ASXL3):c.4470C>T (p.Ser1490=) rs185893902 0.00033
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu) rs201776257 0.00029
NM_030632.3(ASXL3):c.4845G>T (p.Arg1615Ser) rs199888171 0.00013
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) rs201072457 0.00009
NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe) rs199871043 0.00008
NM_030632.3(ASXL3):c.5985C>T (p.Pro1995=) rs547996263 0.00006
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr) rs200334892 0.00004
NM_030632.3(ASXL3):c.6033C>A (p.Asn2011Lys) rs761118865 0.00003
NM_030632.3(ASXL3):c.1245G>T (p.Glu415Asp) rs369775948
NM_030632.3(ASXL3):c.137+9017_137+9018del
NM_030632.3(ASXL3):c.1419A>G (p.Ile473Met)
NM_030632.3(ASXL3):c.1626dup (p.Leu543fs)
NM_030632.3(ASXL3):c.1706C>A (p.Thr569Asn)
NM_030632.3(ASXL3):c.2070del (p.Glu691fs)
NM_030632.3(ASXL3):c.2075C>A (p.Ala692Glu)
NM_030632.3(ASXL3):c.2231C>G (p.Ser744Cys)
NM_030632.3(ASXL3):c.246+10A>G
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys) rs61734121
NM_030632.3(ASXL3):c.2586A>G (p.Lys862=)
NM_030632.3(ASXL3):c.258G>A (p.Ser86=)
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3130A>G (p.Ser1044Gly)
NM_030632.3(ASXL3):c.3187C>T (p.Gln1063Ter)
NM_030632.3(ASXL3):c.3382C>T (p.Arg1128Trp)
NM_030632.3(ASXL3):c.3498A>G (p.Arg1166=)
NM_030632.3(ASXL3):c.356-8G>C
NM_030632.3(ASXL3):c.3789C>A (p.Val1263=)
NM_030632.3(ASXL3):c.3985A>G (p.Ser1329Gly)
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_030632.3(ASXL3):c.4266A>G (p.Thr1422=)
NM_030632.3(ASXL3):c.4717A>G (p.Thr1573Ala)
NM_030632.3(ASXL3):c.4953C>T (p.Asn1651=)
NM_030632.3(ASXL3):c.5608C>T (p.His1870Tyr)
NM_030632.3(ASXL3):c.5649C>T (p.Ser1883=)
NM_030632.3(ASXL3):c.5894G>C (p.Arg1965Thr)
NM_030632.3(ASXL3):c.6056C>T (p.Pro2019Leu)
NM_030632.3(ASXL3):c.6066T>C (p.Pro2022=)
NM_030632.3(ASXL3):c.6107C>T (p.Pro2036Leu)
NM_030632.3(ASXL3):c.6114A>C (p.Pro2038=)
NM_030632.3(ASXL3):c.6131C>T (p.Pro2044Leu)
NM_030632.3(ASXL3):c.6221G>C (p.Gly2074Ala)
NM_030632.3(ASXL3):c.6250C>A (p.Leu2084Ile)
NM_030632.3(ASXL3):c.6282T>G (p.Cys2094Trp)
NM_030632.3(ASXL3):c.6298C>G (p.Gln2100Glu)
NM_030632.3(ASXL3):c.6309T>C (p.Tyr2103=)
NM_030632.3(ASXL3):c.6345C>T (p.Phe2115=)
NM_030632.3(ASXL3):c.6477T>C (p.Phe2159=)
NM_030632.3(ASXL3):c.6610A>G (p.Ser2204Gly)
NM_030632.3(ASXL3):c.694C>T (p.Arg232Ter) rs1302254196
NM_030632.3(ASXL3):c.976+5A>G

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.