ClinVar Miner

List of variants in gene RASA1 studied for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
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.384C>T (p.Leu128=) rs34385096 0.00121
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793 0.00073
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_002890.3(RASA1):c.347T>C (p.Leu116Pro) rs145201086 0.00025
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018 0.00012
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_002890.3(RASA1):c.319G>C (p.Val107Leu) rs138308013 0.00008
NM_002890.3(RASA1):c.346C>G (p.Leu116Val) rs149246093 0.00008
NM_002890.3(RASA1):c.190G>A (p.Gly64Arg) rs777805156 0.00007
NM_002890.3(RASA1):c.396C>T (p.Gly132=) rs898128418 0.00006
NM_002890.3(RASA1):c.259A>T (p.Thr87Ser) rs147942393 0.00005
NM_002890.3(RASA1):c.404C>G (p.Pro135Arg) rs770426834 0.00005
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284 0.00004
NM_002890.3(RASA1):c.467G>T (p.Gly156Val) rs373892264 0.00004
NM_002890.3(RASA1):c.474T>C (p.Ser158=) rs148256526 0.00004
NM_002890.3(RASA1):c.89A>G (p.Tyr30Cys) rs376663338 0.00004
NM_002890.3(RASA1):c.105G>T (p.Arg35=) rs780829562 0.00003
NM_002890.3(RASA1):c.48C>A (p.Ala16=) rs566022333 0.00003
NM_002890.3(RASA1):c.187G>A (p.Gly63Ser) rs749218158 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.39G>T (p.Pro13=) rs969604375 0.00002
NM_002890.3(RASA1):c.442G>T (p.Ala148Ser) rs765405975 0.00002
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro) rs780636400 0.00002
NM_002890.3(RASA1):c.473C>G (p.Ser158Cys) rs200949838 0.00002
NM_002890.3(RASA1):c.62G>A (p.Gly21Asp) rs1436547254 0.00002
NM_002890.3(RASA1):c.68C>G (p.Ala23Gly) rs760944130 0.00002
NM_002890.3(RASA1):c.-179A>C rs886060838 0.00001
NM_002890.3(RASA1):c.100T>C (p.Cys34Arg) rs757010847 0.00001
NM_002890.3(RASA1):c.110A>G (p.Lys37Arg) rs780044015 0.00001
NM_002890.3(RASA1):c.115C>G (p.Pro39Ala) rs772125504 0.00001
NM_002890.3(RASA1):c.124C>T (p.Leu42=) rs1753672813 0.00001
NM_002890.3(RASA1):c.126G>T (p.Leu42=) rs569976773 0.00001
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685 0.00001
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile) rs779770765 0.00001
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751 0.00001
NM_002890.3(RASA1):c.248G>C (p.Gly83Ala) rs755788420 0.00001
NM_002890.3(RASA1):c.249A>T (p.Gly83=) rs1015107894 0.00001
NM_002890.3(RASA1):c.258G>C (p.Leu86=) rs781199990 0.00001
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619 0.00001
NM_002890.3(RASA1):c.318T>C (p.Ala106=) rs1753686148 0.00001
NM_002890.3(RASA1):c.338A>T (p.Asp113Val) rs748658296 0.00001
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609 0.00001
NM_002890.3(RASA1):c.398G>A (p.Gly133Asp) rs1002148193 0.00001
NM_002890.3(RASA1):c.414C>G (p.Pro138=) rs762661391 0.00001
NM_002890.3(RASA1):c.448C>T (p.Leu150Phe) rs370782901 0.00001
NM_002890.3(RASA1):c.453G>T (p.Gly151=) rs778269579 0.00001
NM_002890.3(RASA1):c.480T>C (p.Asp160=) rs749028647 0.00001
NM_002890.3(RASA1):c.508G>A (p.Ala170Thr) rs761820082 0.00001
NM_002890.3(RASA1):c.519G>A (p.Leu173=) rs759689538 0.00001
NM_002890.3(RASA1):c.78C>T (p.Gly26=) rs752084710 0.00001
NC_000005.9:g.(?_86564269)_(86564827_?)del
NC_000005.9:g.(?_86564269)_(86564827_?)dup
NC_000005.9:g.(?_86564269)_(86649072_?)dup
NC_000005.9:g.(?_86564269)_(86659341_?)del
NC_000005.9:g.(?_86564269)_(86686700_?)del
NC_000005.9:g.(?_86627145)_(86659341_?)del
NC_000005.9:g.(?_86627145)_(86672402_?)dup
NC_000005.9:g.(?_86633771)_(86659341_?)del
NC_000005.9:g.(?_86675532)_(86685364_?)dup
NM_002890.2:c.540-406_692+21735del
NM_002890.3(RASA1):c.-128GTT[2] rs371042291
NM_002890.3(RASA1):c.111G>C (p.Lys37Asn)
NM_002890.3(RASA1):c.116C>T (p.Pro39Leu)
NM_002890.3(RASA1):c.118G>A (p.Ala40Thr)
NM_002890.3(RASA1):c.118G>T (p.Ala40Ser)
NM_002890.3(RASA1):c.123C>G (p.Ala41=)
NM_002890.3(RASA1):c.123C>T (p.Ala41=)
NM_002890.3(RASA1):c.129T>C (p.Pro43=)
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
NM_002890.3(RASA1):c.138C>T (p.Ala46=)
NM_002890.3(RASA1):c.141C>G (p.Ala47=)
NM_002890.3(RASA1):c.142C>G (p.Pro48Ala)
NM_002890.3(RASA1):c.142C>T (p.Pro48Ser)
NM_002890.3(RASA1):c.143C>A (p.Pro48His) rs1580178676
NM_002890.3(RASA1):c.143C>G (p.Pro48Arg) rs1580178676
NM_002890.3(RASA1):c.144C>T (p.Pro48=)
NM_002890.3(RASA1):c.149C>T (p.Pro50Leu)
NM_002890.3(RASA1):c.154C>G (p.Leu52Val)
NM_002890.3(RASA1):c.157G>C (p.Val53Leu) rs2112222387
NM_002890.3(RASA1):c.163A>G (p.Thr55Ala) rs1335075421
NM_002890.3(RASA1):c.169G>A (p.Val57Met) rs2112222422
NM_002890.3(RASA1):c.171G>A (p.Val57=) rs750118245
NM_002890.3(RASA1):c.171G>C (p.Val57=)
NM_002890.3(RASA1):c.172_173del (p.Ala58fs) rs2112222433
NM_002890.3(RASA1):c.17_28del (p.Ala6_Glu9del) rs2112221984
NM_002890.3(RASA1):c.17_31del (p.Ala6_Glu10del)
NM_002890.3(RASA1):c.188G>T (p.Gly63Val) rs754945616
NM_002890.3(RASA1):c.195C>T (p.Ala65=) rs184163840
NM_002890.3(RASA1):c.19G>C (p.Gly7Arg)
NM_002890.3(RASA1):c.1A>G (p.Met1Val)
NM_002890.3(RASA1):c.202G>A (p.Gly68Arg) rs1580178771
NM_002890.3(RASA1):c.202G>C (p.Gly68Arg)
NM_002890.3(RASA1):c.208G>C (p.Glu70Gln)
NM_002890.3(RASA1):c.211T>C (p.Phe71Leu) rs2112222520
NM_002890.3(RASA1):c.220G>T (p.Ala74Ser) rs980967533
NM_002890.3(RASA1):c.223G>C (p.Gly75Arg) rs1336430934
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)
NM_002890.3(RASA1):c.230T>G (p.Val77Gly)
NM_002890.3(RASA1):c.234A>T (p.Ala78=)
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.23G>C (p.Ser8Thr)
NM_002890.3(RASA1):c.240A>G (p.Ala80=)
NM_002890.3(RASA1):c.241C>G (p.Leu81Val) rs773960170
NM_002890.3(RASA1):c.244G>A (p.Gly82Arg) rs767017718
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
NM_002890.3(RASA1):c.244G>T (p.Gly82Trp) rs767017718
NM_002890.3(RASA1):c.246G>A (p.Gly82=)
NM_002890.3(RASA1):c.248G>T (p.Gly83Val) rs755788420
NM_002890.3(RASA1):c.250G>A (p.Ala84Thr)
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
NM_002890.3(RASA1):c.251C>T (p.Ala84Val)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg) rs754858818
NM_002890.3(RASA1):c.261A>G (p.Thr87=) rs775947669
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg) rs369735817
NM_002890.3(RASA1):c.262G>C (p.Gly88Arg)
NM_002890.3(RASA1):c.263G>C (p.Gly88Ala)
NM_002890.3(RASA1):c.267A>T (p.Gly89=)
NM_002890.3(RASA1):c.271A>C (p.Thr91Pro)
NM_002890.3(RASA1):c.272C>T (p.Thr91Ile)
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp) rs1205377315
NM_002890.3(RASA1):c.285A>G (p.Val95=)
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1]) rs745572583
NM_002890.3(RASA1):c.288T>C (p.Ala96=)
NM_002890.3(RASA1):c.288_308del (p.93AGVAGAA[1])
NM_002890.3(RASA1):c.291T>C (p.Gly97=) rs1201250470
NM_002890.3(RASA1):c.293C>G (p.Ala98Gly)
NM_002890.3(RASA1):c.299C>T (p.Ala100Val)
NM_002890.3(RASA1):c.299_319del (p.93AGVAGAA[1])
NM_002890.3(RASA1):c.299_319dup (p.93AGVAGAA[3]) rs771844907
NM_002890.3(RASA1):c.299_325del (p.Ala100_Ala108del)
NM_002890.3(RASA1):c.29A>T (p.Glu10Val)
NM_002890.3(RASA1):c.300T>C (p.Ala100=)
NM_002890.3(RASA1):c.302G>A (p.Gly101Asp) rs2112222782
NM_002890.3(RASA1):c.302_322del (p.Gly101_Val107del) rs1258942509
NM_002890.3(RASA1):c.303_326del (p.Val102_Gly109del) rs768241743
NM_002890.3(RASA1):c.307G>A (p.Ala103Thr)
NM_002890.3(RASA1):c.310G>A (p.Gly104Ser) rs2112222798
NM_002890.3(RASA1):c.311G>T (p.Gly104Val)
NM_002890.3(RASA1):c.315T>G (p.Ala105=)
NM_002890.3(RASA1):c.31G>A (p.Gly11Ser)
NM_002890.3(RASA1):c.331A>G (p.Ser111Gly)
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg) rs2112222851
NM_002890.3(RASA1):c.335G>C (p.Gly112Ala)
NM_002890.3(RASA1):c.336A>C (p.Gly112=)
NM_002890.3(RASA1):c.339C>A (p.Asp113Glu)
NM_002890.3(RASA1):c.341T>C (p.Met114Thr)
NM_002890.3(RASA1):c.344C>G (p.Ala115Gly) rs576329276
NM_002890.3(RASA1):c.34G>A (p.Gly12Ser) rs1753664187
NM_002890.3(RASA1):c.34G>T (p.Gly12Cys) rs1753664187
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu) rs1580179229
NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)
NM_002890.3(RASA1):c.358C>T (p.Pro120Ser) rs1266753350
NM_002890.3(RASA1):c.359C>G (p.Pro120Arg)
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.363T>C (p.Thr121=)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter) rs1187087405
NM_002890.3(RASA1):c.365C>T (p.Ser122Leu)
NM_002890.3(RASA1):c.366G>A (p.Ser122=)
NM_002890.3(RASA1):c.36C>T (p.Gly12=)
NM_002890.3(RASA1):c.374C>G (p.Ala125Gly)
NM_002890.3(RASA1):c.375T>G (p.Ala125=)
NM_002890.3(RASA1):c.382C>T (p.Leu128Phe)
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
NM_002890.3(RASA1):c.38C>G (p.Pro13Arg)
NM_002890.3(RASA1):c.395_396delinsTT (p.Gly132Val) rs1554038863
NM_002890.3(RASA1):c.399T>A (p.Gly133=)
NM_002890.3(RASA1):c.402T>C (p.Phe134=) rs1329000012
NM_002890.3(RASA1):c.402del (p.Pro136fs)
NM_002890.3(RASA1):c.403C>A (p.Pro135Thr)
NM_002890.3(RASA1):c.404C>T (p.Pro135Leu)
NM_002890.3(RASA1):c.407C>G (p.Pro136Arg) rs769463654
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.414C>T (p.Pro138=)
NM_002890.3(RASA1):c.415C>G (p.Pro139Ala)
NM_002890.3(RASA1):c.417T>G (p.Pro139=) rs1753693500
NM_002890.3(RASA1):c.418C>A (p.Pro140Thr) rs751440049
NM_002890.3(RASA1):c.420C>G (p.Pro140=)
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
NM_002890.3(RASA1):c.429G>A (p.Leu143=) rs1753694457
NM_002890.3(RASA1):c.42A>T (p.Val14=)
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu) rs1753694671
NM_002890.3(RASA1):c.432C>A (p.Pro144=)
NM_002890.3(RASA1):c.432C>G (p.Pro144=) rs1229617577
NM_002890.3(RASA1):c.432C>T (p.Pro144=)
NM_002890.3(RASA1):c.433C>T (p.Pro145Ser)
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
NM_002890.3(RASA1):c.435T>A (p.Pro145=)
NM_002890.3(RASA1):c.43A>G (p.Thr15Ala)
NM_002890.3(RASA1):c.442dup (p.Ala148fs) rs751951068
NM_002890.3(RASA1):c.443C>T (p.Ala148Val)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile) rs899638423
NM_002890.3(RASA1):c.453G>A (p.Gly151=)
NM_002890.3(RASA1):c.453G>C (p.Gly151=)
NM_002890.3(RASA1):c.454A>G (p.Thr152Ala) rs1753696601
NM_002890.3(RASA1):c.469G>A (p.Asp157Asn)
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) rs1753698267
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs) rs2112223281
NM_002890.3(RASA1):c.50G>T (p.Gly17Val)
NM_002890.3(RASA1):c.515C>T (p.Pro172Leu) rs776808856
NM_002890.3(RASA1):c.516G>A (p.Pro172=)
NM_002890.3(RASA1):c.516G>T (p.Pro172=) rs2112223315
NM_002890.3(RASA1):c.522C>T (p.Thr174=) rs139686009
NM_002890.3(RASA1):c.529C>T (p.Pro177Ser)
NM_002890.3(RASA1):c.532A>G (p.Thr178Ala)
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser) rs150804394
NM_002890.3(RASA1):c.538del (p.Gln180fs) rs2112223340
NM_002890.3(RASA1):c.539+12C>G
NM_002890.3(RASA1):c.539+1G>C rs2112223349
NM_002890.3(RASA1):c.539+20C>T
NM_002890.3(RASA1):c.539+298G>A
NM_002890.3(RASA1):c.539+2T>G
NM_002890.3(RASA1):c.539+3A>G rs1561245221
NM_002890.3(RASA1):c.539+4A>G
NM_002890.3(RASA1):c.539+4dup
NM_002890.3(RASA1):c.539+6T>G
NM_002890.3(RASA1):c.67G>C (p.Ala23Pro)
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.75G>C (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.78del (p.Ser27fs)
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro) rs1753667262
NM_002890.3(RASA1):c.80C>T (p.Ser27Phe)
NM_002890.3(RASA1):c.82A>G (p.Ser28Gly)
NM_002890.3(RASA1):c.85G>A (p.Ala29Thr) rs777487947
NM_002890.3(RASA1):c.85G>T (p.Ala29Ser)
NM_002890.3(RASA1):c.87C>T (p.Ala29=)
NM_002890.3(RASA1):c.88T>A (p.Tyr30Asn)
NM_002890.3(RASA1):c.91C>A (p.Pro31Thr)
NM_002890.3(RASA1):c.91C>T (p.Pro31Ser)
NM_002890.3(RASA1):c.92C>G (p.Pro31Arg) rs1484820367
NM_002890.3(RASA1):c.92C>T (p.Pro31Leu)
NM_002890.3(RASA1):c.98T>C (p.Val33Ala) rs2112222218

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