ClinVar Miner

List of variants reported as pathogenic by UOC Medical Genetics,Istituto Giannina Gaslini

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Total variants: 8
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HGVS dbSNP
NM_001615.4(ACTG2):c.113G>A (p.Arg38His) rs869312168
NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) rs587777383
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) rs587777384
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959
NM_018359.4(UFSP2):c.1277A>C (p.Asp426Ala) rs1554022725

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