ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 6

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Total variants: 8
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NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) rs756696262
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) rs764875815
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174
NM_020320.5(RARS2):c.1650+5G>A rs750433723
NM_020320.5(RARS2):c.370del (p.Gln124fs) rs1554203400
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) rs1582576986
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046

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