ClinVar Miner

List of variants in gene WWOX studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) rs201941494 0.00014
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_016373.4(WWOX):c.172+1G>C rs1377640182 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00001
GRCh37/hg19 16q23.1(chr16:78143268-78154701)
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
GRCh37/hg19 16q23.1(chr16:78409180-78431277)
GRCh37/hg19 16q23.1(chr16:78458767-78458953)
GRCh37/hg19 16q23.1(chr16:78458774-78463512)
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
NC_000016.10:c.(605+1_606-1)_(1056+1_1057-1)dup
NC_000016.9:g.78159969_78320350del
NM_016373.4(WWOX):c.1005G>A (p.Trp335Ter) rs730880290
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.140C>G (p.Pro47Arg) rs730880292
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.172+5G>A
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) rs775696083
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.35C>T (p.Thr12Met)
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.409+1G>T rs1060502727
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_016373.4(WWOX):c.461C>A (p.Ala154Asp)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.517-44258_606-268del
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.601A>G (p.Asn201Asp)
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016373.4(WWOX):c.730C>T (p.Gln244Ter) rs752354290
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_016373.4(WWOX):c.791+1G>A rs1164465811
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro) rs765339835
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_016373.4:c.517-11252_606-17640del

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