ClinVar Miner

List of variants reported as likely pathogenic for Walker-Warburg congenital muscular dystrophy by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
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_001079802.2(FKTN):c.369+1G>C rs764125009 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala) rs1249694833 0.00001
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
NC_000009.11:g.(?_108358859)_(108368857_?)dup
NC_000009.11:g.(?_108358859)_(108382362_?)dup
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NM_001079802.2(FKTN):c.106-1G>C rs2132594628
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.369+1G>A rs764125009
NM_001079802.2(FKTN):c.369+2T>G
NM_001079802.2(FKTN):c.370-2A>T rs1554752805
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.647+1G>A rs2132802825
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C rs1588136441
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
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.1087G>C (p.Val363Leu)
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) rs771793862
NM_024301.5(FKRP):c.1213G>C (p.Val405Leu)
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.155T>C (p.Leu52Pro)
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.862G>C (p.Gly288Arg)
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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