ClinVar Miner

List of variants studied for Larsen syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_004273.5(CHST3):c.*4533C>T rs730720 0.44450
NM_004273.5(CHST3):c.*4107T>C rs731027 0.44435
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39647
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34681
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19352
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04774
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04770
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03944
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03755
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_004273.5(CHST3):c.-274G>T rs146305825 0.02017
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01828
NM_001457.4(FLNB):c.292+8C>A rs9831243 0.01775
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01185
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) rs62621996 0.00994
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00817
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00296
NM_001457.4(FLNB):c.5426-10G>A rs183917041 0.00264
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00258
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00025
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met) rs200993986 0.00021
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu) rs200677473 0.00021
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=) rs200905679 0.00017
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00016
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00010
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00006
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_001457.4(FLNB):c.1298C>A (p.Ala433Asp) rs1455523738 0.00003
NM_001457.4(FLNB):c.3724+4G>C rs993620203 0.00003
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile) rs369949841 0.00003
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_001457.4(FLNB):c.3350A>G (p.His1117Arg) rs779765790 0.00001
NM_001457.4(FLNB):c.4826C>T (p.Thr1609Ile) rs761698437 0.00001
NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His) rs774862180 0.00001
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser) rs80356509
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) rs794727854
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu) rs80356510
NM_001457.4(FLNB):c.1346-2A>G rs757004353
NM_001457.4(FLNB):c.199C>T (p.His67Tyr) rs751371914
NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln) rs755928543
NM_001457.4(FLNB):c.3173C>T (p.Pro1058Leu)
NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) rs2107204256
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg) rs80356511
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala) rs886044175
NM_001457.4(FLNB):c.4427A>G (p.Asp1476Gly)
NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp) rs372940610
NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser) rs2107220190
NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg)
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) rs1356745912
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del) rs80356512
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) rs80356513
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp) rs80356514
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu) rs80356515
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) rs868820857
NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val) rs201848913
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu) rs746892435
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001457.4(FLNB):c.545T>G (p.Leu182Arg)
NM_001457.4(FLNB):c.5465G>A (p.Gly1822Glu)
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) rs80356516
NM_001457.4(FLNB):c.591T>A (p.Asn197Lys) rs1274950884
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725
NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys)
NM_001457.4(FLNB):c.700C>G (p.Leu234Val) rs80356507
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) rs2107340030
NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro)
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*2349A>G rs4148948
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.*4421G>C rs730722
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.-270del rs538907004
NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del) rs1589510055
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143

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