ClinVar Miner

List of variants in gene CCNH, RASA1 studied for capillary malformation

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 216
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HGVS dbSNP
NC_000005.10:g.(?_87390790)_(87390893_?)del
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*1001T>C
NM_002890.3(RASA1):c.*164A>G
NM_002890.3(RASA1):c.*16T>C rs770822619
NM_002890.3(RASA1):c.*267C>G
NM_002890.3(RASA1):c.*271A>C
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*375T>C rs116868431
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*424G>T rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*543A>G rs183575968
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*577T>C
NM_002890.3(RASA1):c.*606G>A
NM_002890.3(RASA1):c.*733_*735ATT[1] rs374889193
NM_002890.3(RASA1):c.*748A>T
NM_002890.3(RASA1):c.*818T>C rs192141756
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G
NM_002890.3(RASA1):c.*97A>G rs115086172
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.1017delinsTTAC (p.Gly340_Arg341insTyr)
NM_002890.3(RASA1):c.1022G>A (p.Arg341Gln)
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678
NM_002890.3(RASA1):c.1049+5G>T rs1580307103
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1055T>C (p.Phe352Ser)
NM_002890.3(RASA1):c.1076A>T (p.Gln359Leu)
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.1103-1G>T
NM_002890.3(RASA1):c.1115G>C (p.Cys372Ser)
NM_002890.3(RASA1):c.1141A>G (p.Asn381Asp) rs1060503437
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs)
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
NM_002890.3(RASA1):c.1218C>A (p.Asn406Lys)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter)
NM_002890.3(RASA1):c.1254-4A>T rs369061989
NM_002890.3(RASA1):c.1257dup (p.Gly420fs)
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1280G>A (p.Arg427Gln) rs755634472
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491
NM_002890.3(RASA1):c.1298A>C (p.Glu433Ala)
NM_002890.3(RASA1):c.1300G>A (p.Gly434Arg)
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480
NM_002890.3(RASA1):c.1324C>T (p.Pro442Ser) rs532587037
NM_002890.3(RASA1):c.1332+2T>G
NM_002890.3(RASA1):c.1332+8T>C rs376637789
NM_002890.3(RASA1):c.1333-17_1340del
NM_002890.3(RASA1):c.1347A>G (p.Val449=)
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432
NM_002890.3(RASA1):c.1352A>G (p.Asn451Ser) rs529871259
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1368C>T (p.Gly456=) rs774547215
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995
NM_002890.3(RASA1):c.1390C>T (p.Arg464Cys)
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1409C>G (p.Ala470Gly) rs199894378
NM_002890.3(RASA1):c.1444C>T (p.Leu482=)
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1535G>A (p.Arg512Gln)
NM_002890.3(RASA1):c.1567A>G (p.Ser523Gly)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs)
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=)
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901
NM_002890.3(RASA1):c.1611-15G>A
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.1627A>G (p.Ile543Val)
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769
NM_002890.3(RASA1):c.1651G>A (p.Glu551Lys) rs878854568
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.1698+2T>C rs1561316757
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130
NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser) rs894219060
NM_002890.3(RASA1):c.1772G>A (p.Arg591His)
NM_002890.3(RASA1):c.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.1777-2A>T
NM_002890.3(RASA1):c.1777-3T>A rs1580380301
NM_002890.3(RASA1):c.1780A>G (p.Ser594Gly)
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs)
NM_002890.3(RASA1):c.1796A>C (p.His599Pro)
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.1888G>C (p.Ala630Pro) rs1580380538
NM_002890.3(RASA1):c.1911A>G (p.Val637=) rs370957991
NM_002890.3(RASA1):c.1914G>T (p.Trp638Cys)
NM_002890.3(RASA1):c.1926dup (p.Val643fs)
NM_002890.3(RASA1):c.1934+2T>G
NM_002890.3(RASA1):c.1935-3T>C rs201249348
NM_002890.3(RASA1):c.1935-3T>G rs201249348
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815
NM_002890.3(RASA1):c.1943C>T (p.Pro648Leu)
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852
NM_002890.3(RASA1):c.1970C>T (p.Thr657Ile)
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2011+6T>A rs1554049237
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) rs192308897
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2052T>C (p.His684=)
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2134T>C (p.Tyr712His)
NM_002890.3(RASA1):c.2138C>G (p.Ser713Cys)
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
NM_002890.3(RASA1):c.2171G>A (p.Ser724Asn)
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter)
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
NM_002890.3(RASA1):c.2239C>A (p.Gln747Lys) rs1561322754
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580
NM_002890.3(RASA1):c.2300C>T (p.Ser767Leu) rs763915835
NM_002890.3(RASA1):c.2316A>G (p.Thr772=)
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621
NM_002890.3(RASA1):c.2345-5T>C
NM_002890.3(RASA1):c.2345-6del rs747443446
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.2366G>A (p.Arg789Gln)
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter)
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr)
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
NM_002890.3(RASA1):c.2451dup (p.Ile818fs)
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)
NM_002890.3(RASA1):c.2461A>G (p.Ile821Val) rs1554049698
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.2487+13T>A
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2574A>T (p.Lys858Asn)
NM_002890.3(RASA1):c.2582T>C (p.Met861Thr)
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2603+2dup rs1580394003
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu) rs138785106
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320
NM_002890.3(RASA1):c.2638T>A (p.Ser880Thr) rs878854571
NM_002890.3(RASA1):c.2648A>G (p.His883Arg)
NM_002890.3(RASA1):c.2666C>A (p.Thr889Asn)
NM_002890.3(RASA1):c.2691-11C>T rs149730288
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2700T>C (p.Val900=)
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2724C>T (p.Ala908=)
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011
NM_002890.3(RASA1):c.2739G>T (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745
NM_002890.3(RASA1):c.2795T>C (p.Leu932Ser) rs1554050426
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs)
NM_002890.3(RASA1):c.2847+1G>A rs1060503438
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs)
NM_002890.3(RASA1):c.2925+1del
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.2926-8C>T rs369251473
NM_002890.3(RASA1):c.2942C>T (p.Pro981Leu) rs772714180
NM_002890.3(RASA1):c.2943G>A (p.Pro981=)
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs)
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+1G>T rs1580418269
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704
NM_002890.3(RASA1):c.3085A>G (p.Ile1029Val) rs377550978
NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs) rs1554051094
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
NM_002890.3(RASA1):c.566C>T (p.Thr189Met)
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs)
NM_002890.3(RASA1):c.602C>T (p.Ser201Phe)
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.617T>C (p.Ile206Thr) rs182498192
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.656C>T (p.Ser219Leu)
NM_002890.3(RASA1):c.693-5A>G
NM_002890.3(RASA1):c.693-6_711del
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
NM_002890.3(RASA1):c.828+1G>A
NM_002890.3(RASA1):c.829-12T>A rs187379673
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.854G>A (p.Arg285Gln)
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)

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