ClinVar Miner

List of variants studied for autosomal recessive spinocerebellar ataxia 12 by Baylor Genetics

Included ClinVar conditions (4):

Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016373.4(WWOX):c.605+5G>A	rs1039151413	0.00001
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)	rs770788315
NM_016373.4(WWOX):c.517-108226G>T	rs1057518676

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