ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation and microcephaly with pontine and cerebellar hypoplasia

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Total variants: 5
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HGVS dbSNP
NM_003688.3(CASK):c.2155+1G>C rs1555977199
NM_003688.3(CASK):c.2156-16G>A rs1569291261
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) rs1569288603
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369

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