List of variants in gene FKRP reported as uncertain significance by Athena Diagnostics Inc

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.740C>A (p.Pro247Gln)	rs528000488	0.00124
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)	rs104894680	0.00086
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	rs199714523	0.00048
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)	rs776947530	0.00026
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	rs771333733	0.00011
NM_024301.5(FKRP):c.731G>A (p.Arg244His)	rs764641619	0.00010
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)	rs746905689	0.00006
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	rs758759348	0.00004
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)	rs1322879846	0.00001
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)	rs1599938256
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)	rs1230638385
NM_024301.5(FKRP):c.291C>T (p.Pro97=)	rs1215872713
NM_024301.5(FKRP):c.930G>A (p.Glu310=)

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