ClinVar Miner

List of variants in gene ATXN1, LOC108663993 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) rs199744696 0.00060
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His) rs201030692 0.00057
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) rs193922926
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup) rs193922926
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup) rs751421308
NM_001128164.2(ATXN1):c.641_642insTCAGCA (p.Gln213_Gln214insHisGln)

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