ClinVar Miner

List of variants reported as uncertain significance for Spastic ataxia 4 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018109.4(MTPAP):c.468G>C (p.Gln156His) rs547303023 0.00003
NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser) rs771770775 0.00001
NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu) rs1057518710
NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro) rs761755004

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