ClinVar Miner

List of variants reported as uncertain significance for lymphatic system disorder by Baylor Genetics

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_199242.3(UNC13D):c.2278G>A (p.Val760Ile) rs143264522 0.00044
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) rs148170326 0.00041
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala) rs151209952 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00012
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) rs148344513 0.00012
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys) rs370198638 0.00009
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) rs140544054 0.00009
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) rs375717418 0.00008
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly) rs565236668 0.00006
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) rs140813794 0.00006
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln) rs746431351 0.00003
NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys) rs1021969177 0.00003
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682 0.00003
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_199242.3(UNC13D):c.1829G>A (p.Arg610His) rs749184121 0.00002
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg) rs1226315961 0.00001
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile) rs746714727 0.00001
NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly) rs762206992 0.00001
NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr) rs866162018 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_005045.4(RELN):c.2465+5G>T rs772717691 0.00001
NM_005045.4(RELN):c.4918A>G (p.Ile1640Val) rs756988903 0.00001
NM_005045.4(RELN):c.74C>T (p.Ala25Val) rs757957218 0.00001
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) rs755148348 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys) rs1393222137 0.00001
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr) rs1276062555 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) rs746064505 0.00001
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) rs1311281590 0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) rs770762358 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) rs374811948 0.00001
NM_199242.3(UNC13D):c.1135G>A (p.Glu379Lys) rs151047555 0.00001
NM_199242.3(UNC13D):c.2795T>C (p.Leu932Pro) rs760552006 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
NM_000081.4(LYST):c.6422C>A (p.Ala2141Asp)
NM_000081.4(LYST):c.7327C>T (p.Leu2443Phe)
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000448.3(RAG1):c.365A>T (p.Glu122Val) rs1266530796
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp) rs1847877445
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)
NM_001083116.3(PRF1):c.1528T>C (p.Cys510Arg) rs1848154937
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly) rs13338527
NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu) rs774612831
NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)
NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val) rs200565115
NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala) rs904769252
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala) rs1328569048
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_004523.4(KIF11):c.131A>G (p.Asp44Gly) rs1844430488
NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn)
NM_004523.4(KIF11):c.151A>G (p.Ser51Gly) rs1844430675
NM_004523.4(KIF11):c.1875+4A>G
NM_004523.4(KIF11):c.2279A>T (p.Asp760Val) rs778431479
NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn)
NM_005045.4(RELN):c.1132G>A (p.Ala378Thr) rs1834010274
NM_005045.4(RELN):c.2728T>C (p.Ser910Pro) rs1831965631
NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) rs966178183
NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) rs1974225710
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys) rs1668861106
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro)
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) rs746064505
NM_006767.4(LZTR1):c.2070-12C>A rs779677120
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) rs1924904363
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) rs1358951592
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) rs1924227635
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
NM_006939.4(SOS2):c.3380-3_3380-2del rs1883462827
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly) rs1886005265
NM_006949.4(STXBP2):c.1071C>T (p.Phe357=) rs2031968313
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) rs1848438761
NM_012388.4(BLOC1S6):c.82+12C>T rs763484836
NM_032638.5(GATA2):c.1405C>T (p.His469Tyr) rs2068620221
NM_182925.5(FLT4):c.1104-2A>G
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu) rs371943727

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