ClinVar Miner

List of variants studied for angioosteohypertrophic syndrome

Included ClinVar conditions (2):
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617 0.00998
NM_002890.3(RASA1):c.*97A>G rs115086172 0.00880
NM_002890.3(RASA1):c.-198G>T rs149279711 0.00708
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_002890.3(RASA1):c.829-12T>A rs187379673 0.00276
NM_002890.3(RASA1):c.1102+10T>C rs150779406 0.00268
NM_002890.3(RASA1):c.2691-11C>T rs149730288 0.00264
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_002890.3(RASA1):c.*476T>G rs543819845 0.00183
NM_002890.3(RASA1):c.*818T>C rs192141756 0.00101
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.*375T>C rs116868431 0.00023
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002890.3(RASA1):c.*424G>T rs191725379 0.00010
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533 0.00009
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106 0.00009
NM_002890.3(RASA1):c.*298T>C rs886060846 0.00006
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036 0.00005
NM_002890.3(RASA1):c.*16T>C rs770822619 0.00004
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033 0.00004
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420 0.00002
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg) rs553059467 0.00002
NM_002890.3(RASA1):c.*448T>G rs886060847 0.00001
NM_002890.3(RASA1):c.*543A>G rs183575968 0.00001
NM_002890.3(RASA1):c.*9G>A rs886060845 0.00001
NM_002890.3(RASA1):c.-179A>C rs886060838 0.00001
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311 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.351C>T (p.Thr117=) rs763970609 0.00001
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) rs2140579005
NM_002890.3(RASA1):c.*1000GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*733ATT[1] rs374889193
NM_002890.3(RASA1):c.*840ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.-128GTT[2] rs371042291
NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) rs2112486988
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) rs772301300
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) rs1757679644
NM_002890.3(RASA1):c.899+8A>G rs781285667
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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