ClinVar Miner

List of variants in gene combination CCNH, RASA1 reported as likely benign for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.*97A>G rs115086172 0.00880
NM_002890.3(RASA1):c.1777-16del rs747412034 0.00322
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.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_002890.3(RASA1):c.1777-13T>A rs757898803 0.00034
NM_002890.3(RASA1):c.2926-8C>T rs369251473 0.00032
NM_002890.3(RASA1):c.2487+13T>A rs372369767 0.00031
NM_002890.3(RASA1):c.2766A>T (p.Pro922=) rs137898246 0.00025
NM_002890.3(RASA1):c.*375T>C rs116868431 0.00023
NM_002890.3(RASA1):c.1041A>G (p.Glu347=) rs765138678 0.00018
NM_002890.3(RASA1):c.2033G>A (p.Ser678Asn) rs192308897 0.00015
NM_002890.3(RASA1):c.1254-4A>T rs369061989 0.00013
NM_002890.3(RASA1):c.1102+12T>C rs555470550 0.00011
NM_002890.3(RASA1):c.*424G>T rs191725379 0.00010
NM_002890.3(RASA1):c.1209A>G (p.Pro403=) rs367991324 0.00009
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.2925+12G>C rs369502267 0.00009
NM_002890.3(RASA1):c.2488-20T>G rs369400038 0.00008
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=) rs149297860 0.00006
NM_002890.3(RASA1):c.1722A>G (p.Ala574=) rs200157130 0.00005
NM_002890.3(RASA1):c.1935-16C>T rs780047662 0.00005
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.1017+13C>T rs779299337 0.00004
NM_002890.3(RASA1):c.1350C>G (p.Leu450=) rs780071686 0.00004
NM_002890.3(RASA1):c.2266C>T (p.Leu756=) rs776305383 0.00004
NM_002890.3(RASA1):c.2337C>T (p.Ser779=) rs758662266 0.00004
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033 0.00004
NM_002890.3(RASA1):c.3120T>C (p.Tyr1040=) rs538998012 0.00004
NM_002890.3(RASA1):c.617T>C (p.Ile206Thr) rs182498192 0.00004
NM_002890.3(RASA1):c.1018-18T>C rs534160838 0.00003
NM_002890.3(RASA1):c.1332+20T>C rs374993077 0.00003
NM_002890.3(RASA1):c.1593T>C (p.His531=) rs368416407 0.00003
NM_002890.3(RASA1):c.1777-12T>A rs933452101 0.00003
NM_002890.3(RASA1):c.2794T>C (p.Leu932=) rs199733745 0.00003
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu) rs145354256 0.00003
NM_002890.3(RASA1):c.1049+16T>C rs1353303200 0.00002
NM_002890.3(RASA1):c.1152C>T (p.Gly384=) rs144668841 0.00002
NM_002890.3(RASA1):c.1575T>C (p.Cys525=) rs758578004 0.00002
NM_002890.3(RASA1):c.1911A>G (p.Val637=) rs370957991 0.00002
NM_002890.3(RASA1):c.2301G>A (p.Ser767=) rs751475441 0.00002
NM_002890.3(RASA1):c.2328A>G (p.Arg776=) rs748472598 0.00002
NM_002890.3(RASA1):c.2345-11T>C rs750436800 0.00002
NM_002890.3(RASA1):c.2434C>T (p.His812Tyr) rs778245184 0.00002
NM_002890.3(RASA1):c.2759-18T>G rs371458251 0.00002
NM_002890.3(RASA1):c.810C>T (p.Tyr270=) rs748164164 0.00002
NM_002890.3(RASA1):c.899+10A>G rs545348240 0.00002
NM_002890.3(RASA1):c.*543A>G rs183575968 0.00001
NM_002890.3(RASA1):c.1035A>G (p.Pro345=) rs188475610 0.00001
NM_002890.3(RASA1):c.1102+9A>G rs942850053 0.00001
NM_002890.3(RASA1):c.1253+19G>T rs374702293 0.00001
NM_002890.3(RASA1):c.1253+8A>G rs757811116 0.00001
NM_002890.3(RASA1):c.1290G>A (p.Gln430=) rs765869491 0.00001
NM_002890.3(RASA1):c.1305T>C (p.Tyr435=) rs778801311 0.00001
NM_002890.3(RASA1):c.1308T>C (p.Tyr436=) rs747987480 0.00001
NM_002890.3(RASA1):c.1320T>C (p.Pro440=) rs758200534 0.00001
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe) rs757166432 0.00001
NM_002890.3(RASA1):c.1380T>C (p.Tyr460=) rs761191995 0.00001
NM_002890.3(RASA1):c.1454-6A>C rs1041546774 0.00001
NM_002890.3(RASA1):c.1587C>T (p.Val529=) rs747313927 0.00001
NM_002890.3(RASA1):c.1605T>C (p.Phe535=) rs1459643901 0.00001
NM_002890.3(RASA1):c.1644T>C (p.Phe548=) rs749876769 0.00001
NM_002890.3(RASA1):c.1698+20A>G rs764032034 0.00001
NM_002890.3(RASA1):c.1809C>T (p.Ala603=) rs746619669 0.00001
NM_002890.3(RASA1):c.1842A>G (p.Pro614=) rs376280581 0.00001
NM_002890.3(RASA1):c.1938T>C (p.Asp646=) rs549861815 0.00001
NM_002890.3(RASA1):c.2012-11T>A rs774133026 0.00001
NM_002890.3(RASA1):c.2073G>A (p.Leu691=) rs767007141 0.00001
NM_002890.3(RASA1):c.2139T>C (p.Ser713=) rs202220195 0.00001
NM_002890.3(RASA1):c.2185-7A>G rs1159798476 0.00001
NM_002890.3(RASA1):c.2256G>A (p.Leu752=) rs1388677749 0.00001
NM_002890.3(RASA1):c.2307G>A (p.Leu769=) rs780065565 0.00001
NM_002890.3(RASA1):c.2316A>G (p.Thr772=) rs755166023 0.00001
NM_002890.3(RASA1):c.2345-6del rs747443446 0.00001
NM_002890.3(RASA1):c.2487+20A>G rs185067003 0.00001
NM_002890.3(RASA1):c.2586T>C (p.Ala862=) rs773083852 0.00001
NM_002890.3(RASA1):c.2604-19G>A rs1487801274 0.00001
NM_002890.3(RASA1):c.2622T>C (p.Tyr874=) rs759595320 0.00001
NM_002890.3(RASA1):c.2691-6A>T rs745758645 0.00001
NM_002890.3(RASA1):c.2751C>T (p.Ile917=) rs1761888219 0.00001
NM_002890.3(RASA1):c.2759-13A>G rs1761990605 0.00001
NM_002890.3(RASA1):c.2848-4T>C rs778704112 0.00001
NM_002890.3(RASA1):c.2913A>G (p.Leu971=) rs997491956 0.00001
NM_002890.3(RASA1):c.2925+20G>C rs1290076478 0.00001
NM_002890.3(RASA1):c.2926-14C>T rs886060843 0.00001
NM_002890.3(RASA1):c.2926-16T>A rs750513068 0.00001
NM_002890.3(RASA1):c.3061-11C>T rs548241728 0.00001
NM_002890.3(RASA1):c.3061-19C>T rs1454542039 0.00001
NM_002890.3(RASA1):c.3102A>G (p.Gln1034=) rs1462232114 0.00001
NM_002890.3(RASA1):c.540-19T>G rs374013466 0.00001
NM_002890.3(RASA1):c.567G>A (p.Thr189=) rs139174054 0.00001
NM_002890.3(RASA1):c.692+17A>G rs1757597491 0.00001
NM_002890.3(RASA1):c.829-7T>C rs750149451 0.00001
NM_002890.3(RASA1):c.909A>G (p.Lys303=) rs765093179 0.00001
NM_002890.3(RASA1):c.*733ATT[1] rs374889193
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.1017+14T>G
NM_002890.3(RASA1):c.1018-15A>C
NM_002890.3(RASA1):c.1018-19C>T
NM_002890.3(RASA1):c.1020C>T (p.Gly340=) rs1356089893
NM_002890.3(RASA1):c.1023G>A (p.Arg341=) rs2112398085
NM_002890.3(RASA1):c.1029A>G (p.Glu343=)
NM_002890.3(RASA1):c.1049+13T>C
NM_002890.3(RASA1):c.1049+14A>T rs2112398215
NM_002890.3(RASA1):c.1092A>G (p.Leu364=)
NM_002890.3(RASA1):c.1113C>G (p.Val371=)
NM_002890.3(RASA1):c.1116C>T (p.Cys372=) rs2112421478
NM_002890.3(RASA1):c.1158T>C (p.Tyr386=)
NM_002890.3(RASA1):c.1161A>C (p.Ser387=)
NM_002890.3(RASA1):c.1185T>C (p.Asn395=) rs2112421663
NM_002890.3(RASA1):c.1253+17dup
NM_002890.3(RASA1):c.1253+19G>A rs374702293
NM_002890.3(RASA1):c.1254-11T>C
NM_002890.3(RASA1):c.1254-12T>G
NM_002890.3(RASA1):c.1254-19G>C rs2112431607
NM_002890.3(RASA1):c.1260G>A (p.Gly420=)
NM_002890.3(RASA1):c.1263C>T (p.Asp421=) rs2112431699
NM_002890.3(RASA1):c.1279C>A (p.Arg427=)
NM_002890.3(RASA1):c.1302A>C (p.Gly434=)
NM_002890.3(RASA1):c.1332+11C>G
NM_002890.3(RASA1):c.1333-13T>C
NM_002890.3(RASA1):c.1333-19A>T
NM_002890.3(RASA1):c.1335T>C (p.Asp445=)
NM_002890.3(RASA1):c.1341A>G (p.Glu447=)
NM_002890.3(RASA1):c.1347A>G (p.Val449=) rs2112456458
NM_002890.3(RASA1):c.1362G>A (p.Val454=)
NM_002890.3(RASA1):c.1377C>T (p.Ile459=)
NM_002890.3(RASA1):c.1389C>A (p.Ile463=)
NM_002890.3(RASA1):c.1389C>T (p.Ile463=) rs2112456838
NM_002890.3(RASA1):c.1413T>C (p.Phe471=)
NM_002890.3(RASA1):c.1444C>T (p.Leu482=) rs1435317488
NM_002890.3(RASA1):c.1453+10G>A
NM_002890.3(RASA1):c.1453+15_1453+16del rs777254176
NM_002890.3(RASA1):c.1453+19C>T rs2112457518
NM_002890.3(RASA1):c.1453+20A>T
NM_002890.3(RASA1):c.1453+20dup
NM_002890.3(RASA1):c.1453+8C>T
NM_002890.3(RASA1):c.1454-13T>G
NM_002890.3(RASA1):c.1454-19_1454-18del rs1417225762
NM_002890.3(RASA1):c.1454-20_1454-18del rs961769740
NM_002890.3(RASA1):c.1464A>G (p.Lys488=)
NM_002890.3(RASA1):c.1467T>C (p.Arg489=)
NM_002890.3(RASA1):c.1479A>G (p.Leu493=)
NM_002890.3(RASA1):c.1509A>G (p.Gln503=)
NM_002890.3(RASA1):c.1512T>C (p.Leu504=)
NM_002890.3(RASA1):c.1527C>T (p.Ser509=)
NM_002890.3(RASA1):c.1584T>C (p.Tyr528=) rs1448608354
NM_002890.3(RASA1):c.1599T>C (p.Ser533=)
NM_002890.3(RASA1):c.1610+20T>C
NM_002890.3(RASA1):c.1610+8A>G
NM_002890.3(RASA1):c.1611-14T>C rs2112474644
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
NM_002890.3(RASA1):c.1611-17T>C
NM_002890.3(RASA1):c.1665T>C (p.Phe555=)
NM_002890.3(RASA1):c.1671T>C (p.Phe557=)
NM_002890.3(RASA1):c.1683T>C (p.Thr561=)
NM_002890.3(RASA1):c.1698+16C>A
NM_002890.3(RASA1):c.1698+7T>C
NM_002890.3(RASA1):c.1710A>G (p.Lys570=)
NM_002890.3(RASA1):c.1716G>C (p.Leu572=)
NM_002890.3(RASA1):c.1777-15_1777-14insATA rs202147617
NM_002890.3(RASA1):c.1777-15_1777-14insATT rs2112484603
NM_002890.3(RASA1):c.1777-17dup rs1761148482
NM_002890.3(RASA1):c.1777-18A>G
NM_002890.3(RASA1):c.1777-18A>T rs779403478
NM_002890.3(RASA1):c.1777-20_1777-14del
NM_002890.3(RASA1):c.1777-21_1777-17del rs1761146991
NM_002890.3(RASA1):c.1777-7T>G rs2112484670
NM_002890.3(RASA1):c.1818C>T (p.Leu606=)
NM_002890.3(RASA1):c.1833T>C (p.Phe611=)
NM_002890.3(RASA1):c.1839T>C (p.Asn613=) rs1266113061
NM_002890.3(RASA1):c.1857C>T (p.Tyr619=)
NM_002890.3(RASA1):c.1887T>C (p.His629=)
NM_002890.3(RASA1):c.1890A>G (p.Ala630=)
NM_002890.3(RASA1):c.1917A>G (p.Ser639=)
NM_002890.3(RASA1):c.1934+11T>C
NM_002890.3(RASA1):c.1934+17_1934+19del
NM_002890.3(RASA1):c.1934+8T>G rs2112485081
NM_002890.3(RASA1):c.1935-14C>T rs749192205
NM_002890.3(RASA1):c.1935-19T>C
NM_002890.3(RASA1):c.2011+10T>C
NM_002890.3(RASA1):c.2011+12_2011+13dup
NM_002890.3(RASA1):c.2011+15A>G
NM_002890.3(RASA1):c.2012-15_2012-12del
NM_002890.3(RASA1):c.2012-17T>G
NM_002890.3(RASA1):c.2012-18C>T
NM_002890.3(RASA1):c.2012-20T>C
NM_002890.3(RASA1):c.2012-7T>C
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2052T>C (p.His684=) rs998050505
NM_002890.3(RASA1):c.2092T>C (p.Leu698=)
NM_002890.3(RASA1):c.2112G>A (p.Gly704=) rs374292148
NM_002890.3(RASA1):c.2112G>T (p.Gly704=) rs374292148
NM_002890.3(RASA1):c.2116C>T (p.Leu706=)
NM_002890.3(RASA1):c.2136C>T (p.Tyr712=)
NM_002890.3(RASA1):c.2160A>G (p.Glu720=)
NM_002890.3(RASA1):c.2184+13_2184+14dup
NM_002890.3(RASA1):c.2184+14T>G
NM_002890.3(RASA1):c.2184+15A>C
NM_002890.3(RASA1):c.2184+15A>G
NM_002890.3(RASA1):c.2185-17_2185-16del
NM_002890.3(RASA1):c.2208T>C (p.His736=) rs756153877
NM_002890.3(RASA1):c.2232A>G (p.Val744=)
NM_002890.3(RASA1):c.2235T>C (p.Cys745=) rs2112492112
NM_002890.3(RASA1):c.2251C>T (p.Leu751=)
NM_002890.3(RASA1):c.2268A>T (p.Leu756=)
NM_002890.3(RASA1):c.2304G>A (p.Leu768=)
NM_002890.3(RASA1):c.2316A>C (p.Thr772=)
NM_002890.3(RASA1):c.2344+14A>G
NM_002890.3(RASA1):c.2344+17T>C
NM_002890.3(RASA1):c.2344+20G>C
NM_002890.3(RASA1):c.2344+9T>C
NM_002890.3(RASA1):c.2345-17T>C
NM_002890.3(RASA1):c.2345-18A>C
NM_002890.3(RASA1):c.2345-4G>A
NM_002890.3(RASA1):c.2345-5T>C rs1761467081
NM_002890.3(RASA1):c.2345-6G>A rs1423456816
NM_002890.3(RASA1):c.2345-9T>C rs1580390526
NM_002890.3(RASA1):c.2358C>G (p.Thr786=)
NM_002890.3(RASA1):c.2361A>G (p.Leu787=)
NM_002890.3(RASA1):c.2403T>C (p.Tyr801=)
NM_002890.3(RASA1):c.2488-19_2488-16del
NM_002890.3(RASA1):c.2488-22_2488-16del
NM_002890.3(RASA1):c.2488-7_2488-4del
NM_002890.3(RASA1):c.2488-7_2488-5del
NM_002890.3(RASA1):c.2505A>G (p.Leu835=)
NM_002890.3(RASA1):c.2520T>C (p.Asp840=)
NM_002890.3(RASA1):c.2532T>C (p.Asn844=)
NM_002890.3(RASA1):c.2541C>T (p.His847=)
NM_002890.3(RASA1):c.2544A>G (p.Leu848=)
NM_002890.3(RASA1):c.2568G>A (p.Val856=)
NM_002890.3(RASA1):c.2603+9T>A
NM_002890.3(RASA1):c.2604-15G>A
NM_002890.3(RASA1):c.2604-15G>T
NM_002890.3(RASA1):c.2690+10A>T
NM_002890.3(RASA1):c.2690+11_2690+13del
NM_002890.3(RASA1):c.2690+12C>A
NM_002890.3(RASA1):c.2690+14A>G
NM_002890.3(RASA1):c.2690+15T>C
NM_002890.3(RASA1):c.2690+20T>G
NM_002890.3(RASA1):c.2691-16T>A
NM_002890.3(RASA1):c.2691-18A>T rs1342566616
NM_002890.3(RASA1):c.2691-4T>C rs201365157
NM_002890.3(RASA1):c.2691-6A>G rs745758645
NM_002890.3(RASA1):c.2697T>C (p.Phe899=)
NM_002890.3(RASA1):c.2700T>C (p.Val900=) rs2112509018
NM_002890.3(RASA1):c.2712C>T (p.Leu904=)
NM_002890.3(RASA1):c.2715C>T (p.Ile905=)
NM_002890.3(RASA1):c.2724C>T (p.Ala908=) rs576034504
NM_002890.3(RASA1):c.2730G>A (p.Leu910=)
NM_002890.3(RASA1):c.2739G>C (p.Arg913=) rs375135791
NM_002890.3(RASA1):c.2758+20T>C
NM_002890.3(RASA1):c.2758+8G>C
NM_002890.3(RASA1):c.2759-11T>A
NM_002890.3(RASA1):c.2759-15C>G rs771148834
NM_002890.3(RASA1):c.2759-16C>T
NM_002890.3(RASA1):c.2759-19G>A
NM_002890.3(RASA1):c.2759-20T>A
NM_002890.3(RASA1):c.2759-7G>A
NM_002890.3(RASA1):c.2759-7G>T
NM_002890.3(RASA1):c.2766A>G (p.Pro922=)
NM_002890.3(RASA1):c.2808T>G (p.Ser936=)
NM_002890.3(RASA1):c.2814G>A (p.Gln938=)
NM_002890.3(RASA1):c.2848-10T>C
NM_002890.3(RASA1):c.2848-17A>G
NM_002890.3(RASA1):c.2848-18A>C
NM_002890.3(RASA1):c.2856C>T (p.Tyr952=)
NM_002890.3(RASA1):c.2925+10T>G
NM_002890.3(RASA1):c.2925+6TA[2]
NM_002890.3(RASA1):c.2925+8T>C
NM_002890.3(RASA1):c.2925+9A>T rs1554050607
NM_002890.3(RASA1):c.2926-13G>A
NM_002890.3(RASA1):c.2926-2dup rs760483907
NM_002890.3(RASA1):c.2926-4A>G
NM_002890.3(RASA1):c.2943G>A (p.Pro981=) rs761753589
NM_002890.3(RASA1):c.2952A>G (p.Thr984=)
NM_002890.3(RASA1):c.2964A>G (p.Arg988=)
NM_002890.3(RASA1):c.2985A>G (p.Leu995=)
NM_002890.3(RASA1):c.2992T>C (p.Leu998=)
NM_002890.3(RASA1):c.3003T>C (p.Ile1001=)
NM_002890.3(RASA1):c.3009G>C (p.Val1003=) rs778423443
NM_002890.3(RASA1):c.3042T>C (p.Asn1014=)
NM_002890.3(RASA1):c.3060+10C>G rs768479962
NM_002890.3(RASA1):c.3060+10C>T rs768479962
NM_002890.3(RASA1):c.3060+18_3060+20del
NM_002890.3(RASA1):c.3060+9dup rs574384512
NM_002890.3(RASA1):c.3061-17A>G
NM_002890.3(RASA1):c.3061-18C>G rs2112530335
NM_002890.3(RASA1):c.3063C>T (p.His1021=)
NM_002890.3(RASA1):c.3066A>G (p.Val1022=)
NM_002890.3(RASA1):c.3090A>C (p.Thr1030=) rs2112530510
NM_002890.3(RASA1):c.3135T>C (p.Asp1045=) rs1166197926
NM_002890.3(RASA1):c.540-15_540-14del
NM_002890.3(RASA1):c.540-4C>G
NM_002890.3(RASA1):c.549C>T (p.His183=)
NM_002890.3(RASA1):c.558T>C (p.Leu186=)
NM_002890.3(RASA1):c.600G>A (p.Lys200=)
NM_002890.3(RASA1):c.606C>G (p.Gly202=) rs1187621828
NM_002890.3(RASA1):c.606C>T (p.Gly202=)
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.651A>G (p.Val217=)
NM_002890.3(RASA1):c.669G>A (p.Gln223=)
NM_002890.3(RASA1):c.675T>C (p.Asn225=)
NM_002890.3(RASA1):c.684C>T (p.Asn228=) rs1286975622
NM_002890.3(RASA1):c.690T>C (p.Phe230=)
NM_002890.3(RASA1):c.692+10del rs745660568
NM_002890.3(RASA1):c.692+8T>C
NM_002890.3(RASA1):c.693-20A>G
NM_002890.3(RASA1):c.711A>C (p.Gly237=)
NM_002890.3(RASA1):c.735T>G (p.Arg245=)
NM_002890.3(RASA1):c.754C>T (p.Leu252=)
NM_002890.3(RASA1):c.774T>C (p.His258=)
NM_002890.3(RASA1):c.825A>G (p.Pro275=)
NM_002890.3(RASA1):c.828+12G>A
NM_002890.3(RASA1):c.828+9A>T
NM_002890.3(RASA1):c.829-11dup rs2112371484
NM_002890.3(RASA1):c.829-8G>A rs1312152887
NM_002890.3(RASA1):c.899+12T>C
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002890.3(RASA1):c.900-13T>C
NM_002890.3(RASA1):c.900-8A>G
NM_002890.3(RASA1):c.924T>C (p.Ile308=)
NM_002890.3(RASA1):c.948A>G (p.Gly316=) rs2112386598
NM_002890.3(RASA1):c.967T>C (p.Leu323=)

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