List of variants in gene CD46 reported as pathogenic for hematologic disorder

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_172351.3(CD46):c.286+2T>G	rs769742294	0.00004
NM_172351.3(CD46):c.287-2A>G	rs759813089	0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs)	rs1191117776	0.00001
NM_172351.3(CD46):c.126_127del (p.Glu42fs)
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)	rs2102541856
NM_172351.3(CD46):c.404del (p.Gly135fs)	rs1571588257
NM_172351.3(CD46):c.476-1G>A	rs1441390681
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)	rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe)	rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs)	rs1571616755
NM_172351.3(CD46):c.735del (p.Lys245fs)
NM_172351.3(CD46):c.776del (p.Gly259fs)	rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)	rs1571617647
NM_172351.3(CD46):c.907del (p.Arg303fs)

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