ClinVar Miner

List of variants reported as pathogenic for Angioosteohypertrophic syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) rs2112486988
NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) rs772301300
NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) rs1757679644
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790

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