ClinVar Miner

List of variants studied for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00014
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00001
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495

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