List of variants in gene FKRP 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	rs140679502	0.00150
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	rs199714523	0.00048
NM_024301.5(FKRP):c.898G>A (p.Val300Met)	rs563033008	0.00032
NM_024301.5(FKRP):c.954C>T (p.Cys318=)	rs755968761	0.00012
NM_024301.5(FKRP):c.731G>A (p.Arg244His)	rs764641619	0.00010
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)	rs552260353	0.00006
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	rs771333733	0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)	rs768762059	0.00005
NM_024301.5(FKRP):c.483C>T (p.Ala161=)	rs797045576	0.00002
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)	rs767570224	0.00001
NM_024301.5(FKRP):c.699G>A (p.Val233=)	rs764527541	0.00001
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)	rs587780334
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe)	rs1555738197
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp)	rs797045575

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