List of variants in gene FKRP reported as uncertain significance by GeneDx

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: 45

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)	rs104894680	0.00086
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	rs762283381	0.00071
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	rs199714523	0.00048
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)	rs144236975	0.00031
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)	rs776947530	0.00026
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
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.1441C>G (p.Pro481Ala)	rs745774108	0.00009
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)	rs777245868	0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)	rs746905689	0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)	rs768762059	0.00006
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	rs769568971	0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	rs375326964	0.00005
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)	rs747511445	0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)	rs758759348	0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His)	rs917645867	0.00004
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)	rs369666163	0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)	rs936866997	0.00003
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)	rs778472624	0.00002
NM_024301.5(FKRP):c.725C>T (p.Ala242Val)	rs1298321836	0.00002
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)	rs751676482	0.00001
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)	rs767570224	0.00001
NM_024301.5(FKRP):c.203A>C (p.Asp68Ala)	rs779035324	0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)	rs1164727838	0.00001
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)	rs1060502106	0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)	rs398124392	0.00001
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe)	rs1226848053	0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)	rs1201873802	0.00001
NM_024301.5(FKRP):c.1059C>A (p.His353Gln)	rs894313503
NM_024301.5(FKRP):c.1168C>G (p.Arg390Gly)	rs2122632676
NM_024301.5(FKRP):c.1183G>A (p.Glu395Lys)	rs762944990
NM_024301.5(FKRP):c.1187A>C (p.Lys396Thr)	rs2122633035
NM_024301.5(FKRP):c.1382C>G (p.Ala461Gly)	rs774161137
NM_024301.5(FKRP):c.1442C>A (p.Pro481His)	rs727502844
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe)	rs1555738197
NM_024301.5(FKRP):c.467T>C (p.Val156Ala)
NM_024301.5(FKRP):c.484A>G (p.Thr162Ala)
NM_024301.5(FKRP):c.511C>G (p.Leu171Val)	rs766747690
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	rs777245868
NM_024301.5(FKRP):c.829G>C (p.Val277Leu)
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	rs1333089122
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg)	rs886043401
NM_024301.5(FKRP):c.957_958delinsAA (p.Arg320Ser)	rs1555738880
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)	rs867877678

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