ClinVar Miner

List of variants studied for Capillary malformation-arteriovenous malformation 1

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Total variants: 116
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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.304G>T (p.Val102Leu) rs115606026 0.00315
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.*164A>G rs112969290 0.00085
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793 0.00073
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.*1001T>C rs536593719 0.00048
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169 0.00030
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.*748A>T rs757684576 0.00014
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.64G>T (p.Gly22Cys) rs371413736 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.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.885C>A (p.Asp295Glu) rs145354256 0.00003
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
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.*271A>C rs1187222979 0.00001
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.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.351C>T (p.Thr117=) rs763970609 0.00001
NM_002890.3(RASA1):c.567G>A (p.Thr189=) rs139174054 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
NM_002890.2:c.540-406_692+21735del
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.*733ATT[1] rs374889193
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.-128GTT[2] rs371042291
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_002890.3(RASA1):c.1103-1G>T rs1759083657
NM_002890.3(RASA1):c.1201del (p.Ile401fs) rs2112421707
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg) rs1580178676
NM_002890.3(RASA1):c.1460del (p.Gly487fs) rs2112459497
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)
NM_002890.3(RASA1):c.1995_1999del (p.Ser665fs) rs2112487030
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.2239C>T (p.Gln747Ter)
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs) rs1761473319
NM_002890.3(RASA1):c.2474dup (p.Gln826fs)
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs) rs1761580770
NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter) rs2112500793
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2771del (p.Pro924fs) rs2112513256
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2925+1del rs1762098966
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.353A>G (p.Lys118Arg)
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.402T>C (p.Phe134=) rs1329000012
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile) rs899638423
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.499del (p.Glu167fs) rs2112223281
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.631C>G (p.Arg211Gly) rs757065933
NM_002890.3(RASA1):c.693-1G>C
NM_002890.3(RASA1):c.703A>G (p.Met235Val) rs1757677358
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro) rs1753667262
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.934_938del (p.Glu312fs) rs1758098122

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