ClinVar Miner

List of variants in gene WWOX reported as pathogenic for infancy electroclinical syndrome

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NC_000016.10:g.(?_78099759)_(78099909_?)del
NC_000016.10:g.(?_78099759)_(78115174_?)del
NC_000016.10:g.(?_78099759)_(78432772_?)del
NC_000016.10:g.(?_78164163)_(78164309_?)del
NC_000016.10:g.(?_78278583)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78386968_?)del
NC_000016.10:g.(?_78424850)_(78425075_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)del
NC_000016.9:g.(?_78133671)_(78149061_?)del
NC_000016.9:g.(?_78133676)_(78149071_?)del
NC_000016.9:g.(?_78142300)_(78198206_?)del
NC_000016.9:g.(?_78142310)_(78142394_?)del
NC_000016.9:g.(?_78148853)_(78149071_?)del
NC_000016.9:g.(?_78148853)_(78198206_?)del
NC_000016.9:g.(?_78420737)_(78458972_?)del
NC_000016.9:g.(?_78420747)_(78458962_?)del
NC_000016.9:g.(?_78420747)_(78466659_?)del
NC_000016.9:g.(?_78458747)_(79245693_?)del
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
NM_016373.4(WWOX):c.1043del (p.Phe348fs) rs1064795117
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+1_107+2delinsTA
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) rs1284883505
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter) rs1057517846
NM_016373.4(WWOX):c.173-1G>C
NM_016373.4(WWOX):c.173-1G>T
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) rs990150249
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) rs373306276
NM_016373.4(WWOX):c.333del (p.Thr112fs) rs2151674791
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.517-1G>T rs867163041
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) rs1567542020
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) rs878855021
NM_016373.4(WWOX):c.854dup (p.Asn285fs) rs1394607357
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795

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