ClinVar Miner

List of variants in gene FKRP reported as likely pathogenic by Invitae

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser) rs2122636612
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln) rs2122609879
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901

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