ClinVar Miner

List of variants in gene WWOX reported as likely pathogenic for autosomal recessive spinocerebellar ataxia 12

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.9:g.(?_78148926)_(78166880_?)del
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter) rs751181600
NM_016373.4(WWOX):c.605+1_605+2delinsAA rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.791+1G>T rs1164465811

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