ClinVar Miner

List of variants studied for benign blood vessel neoplasm

Included ClinVar conditions (36):
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ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_002253.4(KDR):c.3848+15T>C rs2412617 0.99680
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=) rs2257495 0.98384
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_133171.5(ELMO2):c.963G>A (p.Arg321=) rs41310805 0.01127
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=) rs8124302 0.00264
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met) rs776564488 0.00004
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu) rs748266278 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) rs1332140763 0.00003
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_133171.5(ELMO2):c.1416+9C>G rs770529533 0.00002
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034 0.00001
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004985.5(KRAS):c.487A>G (p.Ile163Val) rs1470495974 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
46;XX;ins(3;1)(q23;p22p32)dn
46;XX;t(4;14)(p15.2;q13)dn
46;XY;inv(6)(p22q13)dn
46;XY;t(1;4)(q32;q11)
46;XY;t(7;13)(p15.3;q14.1)dn
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val) rs933640981
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) rs2116680039
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) rs980885552
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs) rs2131267739
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) rs138631461
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly) rs1727604042
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002067.5(GNA11):c.627G>T (p.Gln209His)
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
NM_002253.4(KDR):c.1616G>A (p.Gly539Glu)
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) rs1471482709
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser) rs2116413948
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met) rs755664291
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.168C>T (p.Leu56=)
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup) rs2141509708
NM_004985.5(KRAS):c.331A>G (p.Met111Val)
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys)
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.450+5G>A
NM_004985.5(KRAS):c.451-6T>C
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) rs1589792836
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_006218.4(PIK3CA):c.3196_3203del (p.Ala1066fs)
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) rs1554079046
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_133171.5(ELMO2):c.1065+1G>T
NM_133171.5(ELMO2):c.1279+19del rs76979752
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.311dup (p.Met104fs) rs2145827538
NM_182925.5(FLT4):c.1109A>G (p.Lys370Arg)
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_182925.5(FLT4):c.3712G>A (p.Gly1238Arg)
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.990-1G>A rs1554518790

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