ClinVar Miner

List of variants studied for Neurodegeneration, childhood-onset, with cerebellar atrophy by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001330701.2(AGTPBP1):c.-66del rs549877950 0.00004
NM_001330701.2(AGTPBP1):c.-34+1G>A
NM_001330701.2(AGTPBP1):c.2016-2A>G
NM_001330701.2(AGTPBP1):c.2481T>A (p.Tyr827Ter) rs1829045299
NM_001330701.2(AGTPBP1):c.2738T>A (p.Val913Asp)
NM_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe)

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