ClinVar Miner

List of variants in gene CHRND reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_000751.3(CHRND):c.*145C>G rs530039427 0.00216
NM_000751.3(CHRND):c.*942C>T rs571263995 0.00210
NM_000751.3(CHRND):c.*1189G>C rs556909638 0.00136
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_000751.3(CHRND):c.*290G>A rs535927511 0.00051
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser) rs147050939 0.00035
NM_000751.3(CHRND):c.*580C>T rs371903548 0.00034
NM_000751.3(CHRND):c.619+4C>A rs367936158 0.00032
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu) rs200671975 0.00030
NM_000751.3(CHRND):c.*641C>T rs190008760 0.00029
NM_000751.3(CHRND):c.*1313G>A rs554703726 0.00026
NM_000751.3(CHRND):c.*1314A>T rs574569801 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000751.3(CHRND):c.805T>C (p.Tyr269His) rs141627135 0.00025
NM_000751.3(CHRND):c.*379C>T rs552885486 0.00024
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln) rs142992853 0.00014
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.305G>A (p.Arg102His) rs147919651 0.00013
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu) rs754652646 0.00012
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln) rs759448201 0.00010
NM_000751.3(CHRND):c.*635C>T rs747270172 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000751.3(CHRND):c.1531G>A (p.Val511Met) rs759384601 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.1126C>T (p.Arg376Trp) rs368819172 0.00007
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys) rs377455260 0.00007
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1359C>T (p.Asn453=) rs776972228 0.00006
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln) rs143002322 0.00006
NM_000751.3(CHRND):c.*1278C>T rs983960063 0.00005
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln) rs201264983 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 0.00005
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val) rs373747090 0.00004
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr) rs777430398 0.00004
NM_000751.3(CHRND):c.160G>A (p.Val54Ile) rs369869476 0.00004
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp) rs200755491 0.00004
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) rs371376389 0.00004
NM_000751.3(CHRND):c.988G>A (p.Val330Met) rs773972915 0.00004
NM_000751.3(CHRND):c.*1032C>T rs886055786 0.00003
NM_000751.3(CHRND):c.*227G>A rs766592644 0.00003
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly) rs770099656 0.00003
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) rs563035306 0.00003
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp) rs140455307 0.00003
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile) rs200743096 0.00003
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp) rs777271963 0.00003
NM_000751.3(CHRND):c.*342C>T rs1243263595 0.00002
NM_000751.3(CHRND):c.*453T>C rs575492169 0.00002
NM_000751.3(CHRND):c.*969G>A rs1479082913 0.00002
NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe) rs768633138 0.00002
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys) rs140982683 0.00002
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys) rs533115724 0.00002
NM_000751.3(CHRND):c.1417dup (p.Cys473fs) rs1468893310 0.00002
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu) rs756238142 0.00002
NM_000751.3(CHRND):c.463G>A (p.Val155Ile) rs767201456 0.00002
NM_000751.3(CHRND):c.698G>A (p.Arg233His) rs146416320 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser) rs771670415 0.00002
NM_000751.3(CHRND):c.*196G>A rs886055783 0.00001
NM_000751.3(CHRND):c.*505C>G rs1305242921 0.00001
NM_000751.3(CHRND):c.*598G>C rs774235883 0.00001
NM_000751.3(CHRND):c.*92C>T rs561266227 0.00001
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr) rs778769803 0.00001
NM_000751.3(CHRND):c.1088G>A (p.Arg363His) rs748108743 0.00001
NM_000751.3(CHRND):c.1199T>C (p.Met400Thr) rs774443865 0.00001
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile) rs1691804529 0.00001
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys) rs1011570439 0.00001
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys) rs1242056715 0.00001
NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu) rs772140028 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr) rs1085307559 0.00001
NM_000751.3(CHRND):c.145G>A (p.Glu49Lys) rs767640700 0.00001
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val) rs1317082231 0.00001
NM_000751.3(CHRND):c.1544G>A (p.Arg515His) rs570911554 0.00001
NM_000751.3(CHRND):c.155T>A (p.Val52Glu) rs1260266473 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys) rs121909509 0.00001
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser) rs794727630 0.00001
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu) rs769160054 0.00001
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys) rs1231032358 0.00001
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe) rs762904291 0.00001
NM_000751.3(CHRND):c.52+7G>A rs1388167579 0.00001
NM_000751.3(CHRND):c.524C>T (p.Thr175Met) rs752113659 0.00001
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys) rs778217557 0.00001
NM_000751.3(CHRND):c.647G>A (p.Arg216Gln) rs746959201 0.00001
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser) rs774497252 0.00001
NM_000751.3(CHRND):c.723C>G (p.Ile241Met) rs1416558563 0.00001
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser) rs373187583 0.00001
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp) rs1047325384 0.00001
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg) rs187055404 0.00001
NM_000751.3(CHRND):c.899C>A (p.Pro300His) rs145981548 0.00001
NM_000751.3(CHRND):c.932+3G>A rs772540464 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.957G>A (p.Leu319=) rs1691699126 0.00001
NM_000751.3(CHRND):c.*1194C>T rs778967055
NM_000751.3(CHRND):c.*1232A>C rs1691898332
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*175G>A rs1691855725
NM_000751.3(CHRND):c.*268G>A rs1206421929
NM_000751.3(CHRND):c.*449C>T rs886055784
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
NM_000751.3(CHRND):c.102A>C (p.Gln34His) rs780478522
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln) rs758772612
NM_000751.3(CHRND):c.1047+3G>A
NM_000751.3(CHRND):c.1047+5G>T rs780881475
NM_000751.3(CHRND):c.1071G>C (p.Glu357Asp) rs1235160365
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys) rs1054895490
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg) rs1691800096
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
NM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
NM_000751.3(CHRND):c.1187G>A (p.Arg396His) rs770837281
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu) rs1475752234
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp) rs766721840
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser) rs1242056715
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
NM_000751.3(CHRND):c.1290A>T (p.Glu430Asp) rs1691812180
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs) rs1553575435
NM_000751.3(CHRND):c.1367del (p.Asn456fs) rs775837014
NM_000751.3(CHRND):c.1371+1G>T
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln) rs1574638484
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
NM_000751.3(CHRND):c.1400G>T (p.Arg467Leu) rs148939701
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile) rs374459301
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly) rs533115724
NM_000751.3(CHRND):c.1433C>T (p.Thr478Met)
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1473G>T (p.Gln491His) rs886055781
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu) rs2106215790
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys) rs114463490
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg) rs2106215821
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp) rs1203669806
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr) rs780761579
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro) rs1553573832
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
NM_000751.3(CHRND):c.178C>G (p.Leu60Val) rs200743096
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile) rs2106206284
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro) rs1691518594
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
NM_000751.3(CHRND):c.244-3C>T
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
NM_000751.3(CHRND):c.262C>G (p.Leu88Val) rs180971628
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.281A>G (p.Glu94Gly) rs1691557368
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
NM_000751.3(CHRND):c.298G>C (p.Val100Leu) rs955184518
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys) rs775578238
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg) rs769160054
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
NM_000751.3(CHRND):c.348G>A (p.Glu116=) rs1691560409
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr) rs1691456942
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser) rs752699014
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg) rs752699014
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser) rs1553574327
NM_000751.3(CHRND):c.391G>A (p.Val131Met) rs755141289
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys) rs1441233980
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe) rs2106208649
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe) rs1258523257
NM_000751.3(CHRND):c.52+6G>A rs1301307735
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu) rs1691581371
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys) rs768218659
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn) rs1691584182
NM_000751.3(CHRND):c.620-3C>G rs1691619642
NM_000751.3(CHRND):c.620-3C>T
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg) rs766740341
NM_000751.3(CHRND):c.641T>C (p.Val214Ala) rs1691620619
NM_000751.3(CHRND):c.650C>T (p.Pro217Leu) rs149439815
NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
NM_000751.3(CHRND):c.664G>A (p.Val222Met)
NM_000751.3(CHRND):c.68A>T (p.Asn23Ile) rs1691474796
NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
NM_000751.3(CHRND):c.713_715del (p.Phe238del) rs2106210087
NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
NM_000751.3(CHRND):c.731G>A (p.Arg244His)
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
NM_000751.3(CHRND):c.772G>A (p.Val258Met)
NM_000751.3(CHRND):c.784_786del (p.Phe262del)
NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
NM_000751.3(CHRND):c.820+5G>A
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser) rs1691690683
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro) rs561839978
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
NM_000751.3(CHRND):c.932+5G>T
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro) rs1553575093
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn) rs776316455
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
NM_000751.3(CHRND):c.983T>A (p.Val328Asp) rs2106211615
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe) rs1292476417

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