ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe) rs1226848053
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.5(FKRP):c.957_958delinsAA (p.Arg320Ser) rs1555738880
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678

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