ClinVar Miner

List of variants studied for Cenani-Lenz syndactyly syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00038
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg) rs193247849 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00009
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00008
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr) rs775159238 0.00007
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00006
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00003
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00001
NM_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe) rs375220795 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.2428G>A (p.Val810Ile) rs1246395979
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.