ClinVar Miner

List of variants reported by UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp) rs1573477749 0.00001
NM_001615.4(ACTG2):c.113G>A (p.Arg38His) rs869312168
NM_001615.4(ACTG2):c.123C>A (p.His41Gln) rs774409368
NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) rs587777383
NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg) rs1680075415
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.588G>C (p.Glu196Asp) rs140943831
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959
NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala) rs1554022725

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