List of variants in gene FKRP reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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_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.562G>A (p.Ala188Thr)	rs746905689	0.00006
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	rs769568971	0.00005
NM_024301.5(FKRP):c.1059C>A (p.His353Gln)	rs894313503
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg)	rs1555739321
NM_024301.5(FKRP):c.482C>T (p.Ala161Val)	rs1211533475
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
NM_024301.5(FKRP):c.689G>T (p.Gly230Val)

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