List of variants in gene SKI reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_003036.4(SKI):c.1211+19C>T	rs182600375	0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=)	rs543584871	0.00167
NM_003036.4(SKI):c.216C>T (p.Pro72=)	rs756778048	0.00083
NM_003036.4(SKI):c.1593T>C (p.Pro531=)	rs144279718	0.00065
NM_003036.4(SKI):c.1734C>T (p.Ser578=)	rs117443908	0.00046
NM_003036.4(SKI):c.948G>A (p.Lys316=)	rs368128582	0.00032
NM_003036.4(SKI):c.42C>T (p.His14=)	rs543603037	0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=)	rs140178396	0.00016
NM_003036.4(SKI):c.970-5C>T	rs755318392	0.00011
NM_003036.4(SKI):c.897C>T (p.Arg299=)	rs773901705	0.00009
NM_003036.4(SKI):c.1923G>A (p.Leu641=)	rs199666240	0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=)	rs375024753	0.00006
NM_003036.4(SKI):c.994A>G (p.Ile332Val)	rs374264201	0.00005
NM_003036.4(SKI):c.726C>T (p.Ala242=)	rs139227600	0.00004
NM_003036.4(SKI):c.2013G>A (p.Gln671=)	rs1040803635	0.00002
NM_003036.4(SKI):c.1152C>T (p.Pro384=)	rs200160702	0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=)	rs1446526482	0.00001
NM_003036.4(SKI):c.1887G>A (p.Glu629=)	rs771953750
NM_003036.4(SKI):c.969+10C>T

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