ClinVar Miner

List of variants studied for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome by Medgenome Labs Pvt Ltd

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.1083-3C>G
NM_030632.3(ASXL3):c.1094C>A (p.Ser365Ter)
NM_030632.3(ASXL3):c.1095_1096del (p.Glu367fs) rs1599562180
NM_030632.3(ASXL3):c.1375G>T (p.Glu459Ter)
NM_030632.3(ASXL3):c.138-2A>G
NM_030632.3(ASXL3):c.1428_1429del (p.Phe476_Ser477insTer)
NM_030632.3(ASXL3):c.1606C>T (p.Gln536Ter)
NM_030632.3(ASXL3):c.1840dup (p.Ser614fs)
NM_030632.3(ASXL3):c.187C>T (p.Arg63Ter)
NM_030632.3(ASXL3):c.1990C>T (p.Gln664Ter) rs768312159
NM_030632.3(ASXL3):c.2591_2594del (p.Lys864fs)
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter) rs1131691668
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.3459_3460del (p.Gly1154fs)
NM_030632.3(ASXL3):c.3577G>T (p.Glu1193Ter)
NM_030632.3(ASXL3):c.3845T>A (p.Leu1282Ter)
NM_030632.3(ASXL3):c.3850dup (p.Thr1284fs)
NM_030632.3(ASXL3):c.401C>G (p.Ser134Ter)
NM_030632.3(ASXL3):c.4071dup (p.Val1358fs)
NM_030632.3(ASXL3):c.4120_4123dup (p.Ala1375fs) rs2145426865
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4386del (p.Ala1463fs)
NM_030632.3(ASXL3):c.4736_4737del (p.Phe1579fs)
NM_030632.3(ASXL3):c.5408del (p.Pro1803fs)
NM_030632.3(ASXL3):c.694C>T (p.Arg232Ter) rs1302254196

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