ClinVar Miner

List of variants in gene FKRP reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp) rs797045575
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008

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