ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 2

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.12201
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr) rs762930876
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126

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