ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 4

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)	rs113994151	0.00001
NM_207346.3(TSEN54):c.1160G>T (p.Arg387Leu)	rs1055536776
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly)	rs2147009566

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