ClinVar Miner

List of variants studied for cardiovascular organ benign neoplasm

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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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_005401.5(PTPN14):c.-26G>A rs10864100 0.83031
NM_005401.5(PTPN14):c.2688+26C>T rs3013451 0.82386
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) rs7550799 0.82382
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) rs1135352 0.81332
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_005401.5(PTPN14):c.758+5T>G rs11580603 0.37880
NM_005401.5(PTPN14):c.*26G>A rs2291831 0.15689
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_000546.6(TP53):c.97-6C>T rs35117667 0.00847
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_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
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_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
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_000546.6(TP53):c.-12C>T rs375229869 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
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_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
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_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 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;XX;t(6;17)(q13;q21)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 15q11.2(chr15:22770421-23082328)x1
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
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_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
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_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.96+1G>T rs1131691003
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_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter) rs1554209779
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
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_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
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.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup) rs2141509708
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
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_005401.5(PTPN14):c.*6320C>T
NM_005401.5(PTPN14):c.-154-22749A>G
NM_005401.5(PTPN14):c.-154-42562G>A
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
NM_005401.5(PTPN14):c.929+24del rs11322819
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) rs772718469
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
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.3179G>A (p.Arg1060Gln)
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_194454.3(KRIT1):c.990-1G>A rs1554518790

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