ClinVar Miner

List of variants in gene FKRP reported as uncertain significance for not specified

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
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 0.00031
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
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.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) rs755588907 0.00003
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.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024301.5(FKRP):c.155T>A (p.Leu52Gln) rs2054892463
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) rs1555738197
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp) rs797045575
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295

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