List of variants in gene KPTN reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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_007059.4(KPTN):c.188G>A (p.Arg63Gln)	rs142867197	0.00110
NM_007059.4(KPTN):c.761T>C (p.Ile254Thr)	rs200513352	0.00092
NM_007059.4(KPTN):c.460G>A (p.Gly154Arg)	rs377316863	0.00015
NM_007059.4(KPTN):c.1168G>A (p.Val390Met)	rs201244068	0.00012
NM_007059.4(KPTN):c.1268A>G (p.Glu423Gly)	rs781132082	0.00003
NM_007059.4(KPTN):c.823G>A (p.Val275Met)	rs373073023	0.00002
NM_007059.4(KPTN):c.1000-5C>T	rs1046029135
NM_007059.4(KPTN):c.469C>G (p.Leu157Val)	rs755709167
NM_007059.4(KPTN):c.709+7G>C	rs987680167

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