ClinVar Miner

List of variants studied for Spastic ataxia 4 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628

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