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: 11
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NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_003688.3(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_003688.3(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_003688.3(CASK):c.2074C>T (p.Gln692Ter) rs587783361
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.359A>G (p.His120Arg) rs1602550687
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369
NM_003688.3(CASK):c.787G>A (p.Glu263Lys) rs1602424843

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