List of variants in gene BCAS3 reported as likely pathogenic for Hengel-Maroofian-Schols syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017679.5(BCAS3):c.1630C>T (p.Arg544Ter)
NM_017679.5(BCAS3):c.386T>A (p.Leu129Ter)	rs2544663258
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)	rs2145000036

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