ClinVar Miner

List of variants in gene MAF, WWOX studied for Autosomal recessive spinocerebellar ataxia 12

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del) rs770788315
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434

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