List of variants in gene ASXL1 reported as pathogenic for developmental disorder of mental health

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	rs373145711	0.00003
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)	rs397515401	0.00001
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)	rs886043994
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs)	rs1569324457
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs)	rs1600583334
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)	rs777537805
NM_015338.6(ASXL1):c.1719+1G>A	rs1311986203
NM_015338.6(ASXL1):c.1720-1G>A	rs1254271466
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val)	rs2011649912
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)	rs111316898
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)	rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)	rs1600586587
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter)	rs1555901138
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter)	rs387907078
NM_015338.6(ASXL1):c.2302dup (p.Gln768fs)
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs)	rs1600588199
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs)	rs1600588239
NM_015338.6(ASXL1):c.2456del (p.Gly819fs)
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs)	rs750170870
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs)	rs2145372935
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter)	rs387907077
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter)	rs200702600
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)	rs764651405
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter)	rs757040754
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)	rs1569337452
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer)	rs1555912709
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter)	rs763386297
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)	rs1569339085
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)

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