ClinVar Miner

List of variants in gene ASXL1 reported as likely pathogenic for Bohring-Opitz syndrome

Included ClinVar conditions (1):

Bohring-Opitz syndrome

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)	rs1569337176
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)	rs1600592990

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