ClinVar Miner

List of variants in gene ASXL1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.2444= (p.Pro815=)	rs6058694	0.99998
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=)	rs4911231	0.34448
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val)	rs370230857	0.00007

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