ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as pathogenic for Angioosteohypertrophic syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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

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