List of variants in gene ASXL1 reported as pathogenic for Inborn genetic diseases

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter)	rs1427299519	0.00001
NM_015338.6(ASXL1):c.1446dup (p.Val483fs)	rs1555911515
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)	rs777537805
NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs)	rs1555912285
NM_015338.6(ASXL1):c.2791del (p.Glu931fs)	rs1555912296
NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter)	rs1555912419
NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)	rs1555912897
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)	rs754129466

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