List of variants in gene SKI reported as pathogenic by Invitae

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)	rs387907306
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)	rs397514590
NM_003036.4(SKI):c.265C>T (p.Pro89Ser)	rs1638569809
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)	rs387907303
NM_003036.4(SKI):c.349G>A (p.Gly117Ser)	rs869312901
NM_003036.4(SKI):c.539C>T (p.Thr180Met)	rs863223722
NM_003036.4(SKI):c.59C>T (p.Thr20Met)	rs1060502671
NM_003036.4(SKI):c.638_895del (p.Leu213_Ala298del)	rs1553189986
NM_003036.4(SKI):c.82T>A (p.Ser28Thr)

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