ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as uncertain significance for Capillary malformation-arteriovenous malformation 1

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.*476T>G rs543819845 0.00183
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.*748A>T rs757684576 0.00014
NM_002890.3(RASA1):c.*298T>C rs886060846 0.00006
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala) rs759711265 0.00004
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033 0.00004
NM_002890.3(RASA1):c.*577T>C rs1488076469 0.00003
NM_002890.3(RASA1):c.566C>T (p.Thr189Met) rs986802785 0.00003
NM_002890.3(RASA1):c.*271A>C rs1187222979 0.00001
NM_002890.3(RASA1):c.*448T>G rs886060847 0.00001
NM_002890.3(RASA1):c.*9G>A rs886060845 0.00001
NM_002890.3(RASA1):c.2139T>C (p.Ser713=) rs202220195 0.00001
NM_002890.3(RASA1):c.2926-14C>T rs886060843 0.00001
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844 0.00001
NM_002890.3(RASA1):c.567G>A (p.Thr189=) rs139174054 0.00001
NM_002890.3(RASA1):c.*1000GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*267C>G rs1762485512
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*606G>A rs1762511406
NM_002890.3(RASA1):c.*840ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G rs983905296
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)
NM_002890.3(RASA1):c.2185-5T>G rs2112491988
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)
NM_002890.3(RASA1):c.3037A>G (p.Ser1013Gly) rs993477801
NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.631C>G (p.Arg211Gly) rs757065933
NM_002890.3(RASA1):c.703A>G (p.Met235Val) rs1757677358
NM_002890.3(RASA1):c.899+8A>G rs781285667

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