ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 12 by Genome-Nilou Lab

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
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.1238C>A (p.Ser413Tyr) rs117065412 0.01316
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.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
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.669T>C (p.Asp223=) rs72549408 0.00103
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
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.517-17A>G rs79423401 0.00014
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232

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