ClinVar Miner

List of variants in gene ASXL3 reported as likely pathogenic for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030632.3(ASXL3):c.1082+1781_3039+950del
NM_030632.3(ASXL3):c.1191_1192del (p.Gln397fs)
NM_030632.3(ASXL3):c.1220_1226dup (p.Ser410fs)
NM_030632.3(ASXL3):c.1243G>T (p.Glu415Ter)
NM_030632.3(ASXL3):c.1377_1378del (p.Glu459fs)
NM_030632.3(ASXL3):c.1402G>T (p.Glu468Ter) rs2145412175
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1552_1555del (p.Val517_Lys518insTer)
NM_030632.3(ASXL3):c.1579C>T (p.Gln527Ter)
NM_030632.3(ASXL3):c.1579dup (p.Gln527fs) rs1599563269
NM_030632.3(ASXL3):c.1582del (p.Glu528fs) rs2067600337
NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs)
NM_030632.3(ASXL3):c.1627_1628del (p.Leu543fs) rs1085307640
NM_030632.3(ASXL3):c.1669G>T (p.Glu557Ter) rs2067603110
NM_030632.3(ASXL3):c.1714del (p.Lys571_Ile572insTer) rs2145413424
NM_030632.3(ASXL3):c.1744C>T (p.Gln582Ter)
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.1990C>T (p.Gln664Ter)
NM_030632.3(ASXL3):c.2002del (p.Thr668fs) rs2145414409
NM_030632.3(ASXL3):c.2047_2048insATAA (p.Ile683fs)
NM_030632.3(ASXL3):c.2160dup (p.Asp721Ter) rs2145414972
NM_030632.3(ASXL3):c.2398C>T (p.Gln800Ter)
NM_030632.3(ASXL3):c.2617_2618del (p.Glu873fs)
NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter) rs2067636699
NM_030632.3(ASXL3):c.2902G>T (p.Glu968Ter)
NM_030632.3(ASXL3):c.3001C>T (p.Gln1001Ter) rs2067642748
NM_030632.3(ASXL3):c.3014_3015dup (p.Glu1006fs) rs1599566942
NM_030632.3(ASXL3):c.3033dup (p.Leu1012fs) rs2067643753
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3298del (p.Ala1100fs) rs2067694046
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.3352dup (p.Ala1118fs) rs2145423903
NM_030632.3(ASXL3):c.3374_3377dup (p.Thr1127fs) rs2067695956
NM_030632.3(ASXL3):c.3511A>T (p.Lys1171Ter)
NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter) rs2067703001
NM_030632.3(ASXL3):c.36G>A (p.Trp12Ter)
NM_030632.3(ASXL3):c.3785_3786del (p.Ser1262fs) rs2067707522
NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg) rs2145425648
NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs)
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.4156del (p.Ser1386fs) rs2067717504
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4356del (p.Lys1452fs)
NM_030632.3(ASXL3):c.4403C>G (p.Ser1468Ter) rs2145428243
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030632.3(ASXL3):c.4624del (p.Ala1542fs)
NM_030632.3(ASXL3):c.4839_4890del (p.Met1614fs)
NM_030632.3(ASXL3):c.5414del (p.Pro1805fs)
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) rs2145432318
NM_030632.3(ASXL3):c.6165del (p.Lys2055fs) rs1555745616
NM_030632.3(ASXL3):c.6684_6687dup (p.Cys2230fs)
NM_030632.3(ASXL3):c.715+5G>C rs2145256753

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