ClinVar Miner

List of variants studied for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome by GenomeConnect - Simons Searchlight

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.3500C>A (p.Ser1167Tyr) rs2067699917 0.00001
GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1
NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter) rs1282045990
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs) rs797045317
NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter) rs2067589435
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) rs1555742087
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs) rs2067597244
NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter) rs1568359816
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs) rs1599563269
NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs) rs1085307640
NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter) rs1555742333
NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer) rs2067607599
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.1939dup (p.Thr647fs) rs886041753
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) rs2067694467
NM_030632.3(ASXL3):c.3321_3325del (p.Lys1109fs) rs2067694639
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs) rs2067695956
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs) rs2067703753
NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter) rs1555743954
NM_030632.3(ASXL3):c.4022_4023del (p.Val1341fs) rs886041846
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) rs1555744039
NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs) rs1599572831
NM_030632.3(ASXL3):c.4156del (p.Ser1386fs) rs2067717504
NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs) rs2067717913
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs) rs1555744175
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter) rs2067723272
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs) rs1555744396
NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs) rs2067741671
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs) rs1555745616

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