ClinVar Miner

List of variants studied for Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
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.591C>G (p.Phe197Leu) rs200847456 0.00011
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.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
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.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)

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