List of variants in gene FKRP reported as likely benign for autosomal recessive disease

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.249C>T (p.Ala83=)	rs149030303	0.00897
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00359
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)	rs140679502	0.00150
NM_024301.5(FKRP):c.567C>T (p.Pro189=)	rs201454433	0.00144
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)	rs528000488	0.00124
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)	rs200990647	0.00109
NM_024301.5(FKRP):c.606G>A (p.Leu202=)	rs140084192	0.00066
NM_024301.5(FKRP):c.531G>A (p.Glu177=)	rs768007208	0.00057
NM_024301.5(FKRP):c.885C>T (p.Arg295=)	rs769005880	0.00022
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)	rs143129484	0.00015
NM_024301.5(FKRP):c.828A>G (p.Leu276=)	rs745994685	0.00013
NM_024301.5(FKRP):c.54T>A (p.Leu18=)	rs565563742	0.00008
NM_024301.5(FKRP):c.1236C>T (p.His412=)	rs201076863	0.00004
NM_024301.5(FKRP):c.483C>T (p.Ala161=)	rs797045576	0.00002
NM_024301.5(FKRP):c.582G>A (p.Leu194=)	rs771223960	0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=)	rs756295058	0.00001
NM_024301.5(FKRP):c.1056C>T (p.Arg352=)	rs886038682
NM_024301.5(FKRP):c.168C>T (p.Phe56=)	rs1443120812
NM_024301.5(FKRP):c.558C>A (p.Pro186=)	rs1266858563
NM_024301.5(FKRP):c.561C>G (p.Ala187=)	rs771770302
NM_024301.5(FKRP):c.696G>T (p.Ala232=)	rs398124394
NM_024301.5(FKRP):c.708G>A (p.Leu236=)	rs886038683

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