ClinVar Miner

List of variants studied for lymphatic system disorder by Clinical Genomics Laboratory, Washington University in St. Louis

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) rs191999971 0.00058
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) rs200772179 0.00038
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) rs141773516 0.00033
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met) rs377701196 0.00028
NM_182925.5(FLT4):c.1472C>T (p.Ala491Val) rs146167161 0.00028
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp) rs147208835 0.00012
NM_001291303.3(FAT4):c.7264A>T (p.Ser2422Cys) rs139924242 0.00011
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_001291303.3(FAT4):c.821C>T (p.Ala274Val) rs199605036 0.00009
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00008
NM_001291303.3(FAT4):c.4543G>A (p.Val1515Met) rs773912269 0.00006
NM_001291303.3(FAT4):c.5806G>A (p.Asp1936Asn) rs1235801879 0.00005
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile) rs373591504 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1615+5G>A rs758783465 0.00004
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) rs947487272 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001291303.3(FAT4):c.11134G>T (p.Asp3712Tyr) rs769490380 0.00001
NM_001291303.3(FAT4):c.44C>G (p.Pro15Arg) rs375956663 0.00001
NM_001291303.3(FAT4):c.9315C>G (p.Ser3105Arg) rs1419658326 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.518G>A (p.Arg173His) rs369155025 0.00001
NM_004523.4(KIF11):c.979C>T (p.Arg327Cys) rs191708835 0.00001
NM_005633.4(SOS1):c.473C>T (p.Thr158Ile) rs776744951 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1432C>T (p.Arg478Trp) rs150365548 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_000081.4(LYST):c.10801-91T>G
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
NM_001142864.4(PIEZO1):c.1000G>A (p.Ala334Thr)
NM_001142864.4(PIEZO1):c.1189C>T (p.Arg397Trp)
NM_001142864.4(PIEZO1):c.1342C>T (p.Leu448Phe)
NM_001142864.4(PIEZO1):c.1678C>T (p.Arg560Trp)
NM_001142864.4(PIEZO1):c.172C>T (p.Arg58Cys)
NM_001142864.4(PIEZO1):c.2551C>T (p.Arg851Trp)
NM_001142864.4(PIEZO1):c.2559G>A (p.Met853Ile)
NM_001142864.4(PIEZO1):c.2578G>A (p.Val860Met)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2966T>A (p.Phe989Tyr)
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=)
NM_001142864.4(PIEZO1):c.3397G>A (p.Asp1133Asn)
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
NM_001142864.4(PIEZO1):c.3637G>C (p.Val1213Leu)
NM_001142864.4(PIEZO1):c.3795C>T (p.Asp1265=)
NM_001142864.4(PIEZO1):c.3875T>G (p.Phe1292Cys)
NM_001142864.4(PIEZO1):c.4181G>A (p.Gly1394Asp)
NM_001142864.4(PIEZO1):c.430A>G (p.Arg144Gly)
NM_001142864.4(PIEZO1):c.4385_4390del (p.Arg1462_Gln1463del)
NM_001142864.4(PIEZO1):c.4428G>C (p.Gln1476His)
NM_001142864.4(PIEZO1):c.4607A>G (p.His1536Arg)
NM_001142864.4(PIEZO1):c.4870G>A (p.Ala1624Thr)
NM_001142864.4(PIEZO1):c.4915C>T (p.Gln1639Ter)
NM_001142864.4(PIEZO1):c.5057A>G (p.His1686Arg)
NM_001142864.4(PIEZO1):c.5072_5074del (p.Cys1691del)
NM_001142864.4(PIEZO1):c.5116G>A (p.Gly1706Ser)
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5532G>A (p.Val1844=)
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
NM_001142864.4(PIEZO1):c.5992G>A (p.Asp1998Asn)
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
NM_001142864.4(PIEZO1):c.6854G>A (p.Arg2285His)
NM_001142864.4(PIEZO1):c.7057C>T (p.Pro2353Ser)
NM_001142864.4(PIEZO1):c.7420G>A (p.Val2474Met)
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) rs774268616
NM_001142864.4(PIEZO1):c.910_912del (p.Leu304del) rs753619127
NM_001291303.3(FAT4):c.10483A>G (p.Ser3495Gly)
NM_001291303.3(FAT4):c.11074C>T (p.His3692Tyr)
NM_001291303.3(FAT4):c.11225A>G (p.Gln3742Arg)
NM_001291303.3(FAT4):c.11347A>G (p.Thr3783Ala)
NM_001291303.3(FAT4):c.14009G>A (p.Gly4670Glu)
NM_001291303.3(FAT4):c.14120C>A (p.Pro4707His)
NM_001291303.3(FAT4):c.1441A>G (p.Arg481Gly)
NM_001291303.3(FAT4):c.14468G>A (p.Arg4823Lys)
NM_001291303.3(FAT4):c.14756T>C (p.Leu4919Pro)
NM_001291303.3(FAT4):c.14945_14946del (p.Tyr4982fs)
NM_001291303.3(FAT4):c.1856G>A (p.Arg619His)
NM_001291303.3(FAT4):c.2102A>G (p.Asn701Ser)
NM_001291303.3(FAT4):c.2485C>G (p.Leu829Val)
NM_001291303.3(FAT4):c.3808A>C (p.Ile1270Leu)
NM_001291303.3(FAT4):c.5914G>A (p.Asp1972Asn)
NM_001291303.3(FAT4):c.8921A>G (p.Asn2974Ser)
NM_001291303.3(FAT4):c.9203A>G (p.Asn3068Ser)
NM_001291303.3(FAT4):c.9964G>A (p.Val3322Met)
NM_001378328.1(CELSR1):c.1849G>T (p.Ala617Ser)
NM_001378328.1(CELSR1):c.3169C>T (p.Arg1057Cys)
NM_001378328.1(CELSR1):c.3968G>A (p.Arg1323Gln)
NM_001378328.1(CELSR1):c.4270G>A (p.Gly1424Ser)
NM_001378328.1(CELSR1):c.4366C>T (p.Arg1456Trp)
NM_001378328.1(CELSR1):c.4552G>C (p.Val1518Leu)
NM_001378328.1(CELSR1):c.4903G>A (p.Gly1635Arg)
NM_001378328.1(CELSR1):c.4928G>A (p.Arg1643Gln)
NM_001378328.1(CELSR1):c.5501G>A (p.Arg1834His)
NM_001378328.1(CELSR1):c.6010G>A (p.Asp2004Asn)
NM_001378328.1(CELSR1):c.6160G>T (p.Gly2054Cys)
NM_001378328.1(CELSR1):c.6371C>T (p.Thr2124Met)
NM_001378328.1(CELSR1):c.6463A>G (p.Thr2155Ala)
NM_001378328.1(CELSR1):c.6514G>A (p.Gly2172Ser)
NM_001378328.1(CELSR1):c.6544G>A (p.Asp2182Asn)
NM_001378328.1(CELSR1):c.692G>T (p.Arg231Leu)
NM_001378328.1(CELSR1):c.7256C>T (p.Ala2419Val)
NM_001378328.1(CELSR1):c.7492T>C (p.Ser2498Pro)
NM_001378328.1(CELSR1):c.7715G>A (p.Arg2572Gln)
NM_001378328.1(CELSR1):c.7792G>A (p.Gly2598Arg)
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_003737.4(DCHS1):c.3017G>A (p.Arg1006His)
NM_003737.4(DCHS1):c.5842A>G (p.Ile1948Val)
NM_003737.4(DCHS1):c.767A>G (p.Asn256Ser)
NM_003737.4(DCHS1):c.860A>G (p.Asn287Ser)
NM_004444.5(EPHB4):c.1738C>T (p.Gln580Ter) rs2116434296
NM_004444.5(EPHB4):c.2182A>G (p.Met728Val)
NM_004444.5(EPHB4):c.2213A>G (p.His738Arg)
NM_004444.5(EPHB4):c.2522C>T (p.Pro841Leu)
NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg)
NM_004444.5(EPHB4):c.2785G>A (p.Ala929Thr)
NM_004444.5(EPHB4):c.53-2A>T
NM_004444.5(EPHB4):c.896C>T (p.Ser299Leu)
NM_004523.4(KIF11):c.2160+5G>A
NM_004523.4(KIF11):c.235A>G (p.Ile79Val)
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
NM_005401.5(PTPN14):c.1583C>T (p.Pro528Leu)
NM_005401.5(PTPN14):c.1754A>C (p.His585Pro)
NM_005401.5(PTPN14):c.1882C>G (p.Leu628Val)
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
NM_005401.5(PTPN14):c.2216C>T (p.Ala739Val)
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
NM_005401.5(PTPN14):c.2859A>G (p.Ile953Met)
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
NM_005401.5(PTPN14):c.456C>G (p.Asp152Glu)
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
NM_005633.4(SOS1):c.2167+5dup
NM_006767.4(LZTR1):c.1260+1G>T
NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
NM_006767.4(LZTR1):c.1500del (p.Ala501fs)
NM_006767.4(LZTR1):c.1720G>A (p.Val574Met)
NM_006767.4(LZTR1):c.1996T>G (p.Phe666Val)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.2137A>G (p.Met713Val) rs1400606234
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
NM_006939.4(SOS2):c.3305T>G (p.Val1102Gly)
NM_018419.3(SOX18):c.166C>T (p.Arg56Cys)
NM_018419.3(SOX18):c.800C>G (p.Ala267Gly)
NM_018419.3(SOX18):c.961G>A (p.Asp321Asn)
NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)
NM_020435.4(GJC2):c.373C>G (p.Arg125Gly)
NM_020435.4(GJC2):c.512A>C (p.Glu171Ala)
NM_020435.4(GJC2):c.607C>T (p.Arg203Cys)
NM_133459.4(CCBE1):c.1022T>C (p.Met341Thr)
NM_182925.5(FLT4):c.1422-8C>T
NM_182925.5(FLT4):c.1519T>C (p.Trp507Arg)
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu) rs149033942
NM_182925.5(FLT4):c.3092G>A (p.Arg1031Gln)
NM_182925.5(FLT4):c.3380G>A (p.Arg1127Gln)
NM_182925.5(FLT4):c.3434G>A (p.Arg1145His)
NM_182925.5(FLT4):c.676+6_676+30del

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