ClinVar Miner

List of variants in gene CHRND reported as likely benign for Lethal multiple pterygium syndrome

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Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
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.817G>A (p.Asp273Asn) rs202209156 0.00051
NM_000751.3(CHRND):c.408C>T (p.Tyr136=) rs112921420 0.00046
NM_000751.3(CHRND):c.1416C>T (p.Leu472=) rs145857136 0.00041
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.44C>T (p.Ala15Val) rs142531974 0.00036
NM_000751.3(CHRND):c.813G>A (p.Pro271=) rs147073853 0.00036
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser) rs139190636 0.00035
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_000751.3(CHRND):c.933-9T>C rs199592458 0.00031
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.932+10G>A rs370309294 0.00020
NM_000751.3(CHRND):c.728G>A (p.Arg243His) rs148869069 0.00019
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.711C>T (p.Thr237=) rs752356816 0.00014
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His) rs368695808 0.00013
NM_000751.3(CHRND):c.*908A>G rs547787086 0.00012
NM_000751.3(CHRND):c.620-7C>T rs532055784 0.00011
NM_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_000751.3(CHRND):c.198+7G>A rs372767822 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.705C>T (p.Asp235=) rs145634347 0.00009
NM_000751.3(CHRND):c.360C>T (p.Asp120=) rs764641517 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.53-16C>T rs776242631 0.00008
NM_000751.3(CHRND):c.1035G>A (p.Glu345=) rs548168819 0.00007
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1476C>T (p.Gly492=) rs748744922 0.00006
NM_000751.3(CHRND):c.415G>A (p.Val139Met) rs147452877 0.00006
NM_000751.3(CHRND):c.225C>G (p.Thr75=) rs146508326 0.00005
NM_000751.3(CHRND):c.582C>T (p.Pro194=) rs773089899 0.00005
NM_000751.3(CHRND):c.849G>A (p.Ser283=) rs749757968 0.00005
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.390C>T (p.Asn130=) rs55700159 0.00004
NM_000751.3(CHRND):c.620-9C>T rs112019415 0.00004
NM_000751.3(CHRND):c.353+14C>G rs765810417 0.00003
NM_000751.3(CHRND):c.882C>T (p.Leu294=) rs1178183798 0.00003
NM_000751.3(CHRND):c.1047+16G>A rs1287834322 0.00002
NM_000751.3(CHRND):c.1047+19G>A rs749274268 0.00002
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln) rs564930869 0.00002
NM_000751.3(CHRND):c.1371+10C>A rs762637499 0.00002
NM_000751.3(CHRND):c.198+15G>A rs764503079 0.00002
NM_000751.3(CHRND):c.315G>A (p.Pro105=) rs770730077 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.932+16G>A rs759403975 0.00002
NM_000751.3(CHRND):c.1122G>A (p.Leu374=) rs1438844656 0.00001
NM_000751.3(CHRND):c.1143G>C (p.Leu381=) rs1464265235 0.00001
NM_000751.3(CHRND):c.129G>A (p.Arg43=) rs765106484 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.132C>T (p.Pro44=) rs774771779 0.00001
NM_000751.3(CHRND):c.1434G>A (p.Thr478=) rs554876874 0.00001
NM_000751.3(CHRND):c.1452C>A (p.Gly484=) rs1221932092 0.00001
NM_000751.3(CHRND):c.1497C>G (p.Pro499=) rs772552126 0.00001
NM_000751.3(CHRND):c.1527C>T (p.Tyr509=) rs572853269 0.00001
NM_000751.3(CHRND):c.159C>T (p.Asp53=) rs370725931 0.00001
NM_000751.3(CHRND):c.199-12G>A rs937840228 0.00001
NM_000751.3(CHRND):c.264G>C (p.Leu88=) rs1029592483 0.00001
NM_000751.3(CHRND):c.375C>T (p.Ile125=) rs756324982 0.00001
NM_000751.3(CHRND):c.435C>T (p.Ala145=) rs1691569899 0.00001
NM_000751.3(CHRND):c.447C>T (p.Ser149=) rs371097455 0.00001
NM_000751.3(CHRND):c.510-16C>A rs1038117512 0.00001
NM_000751.3(CHRND):c.606T>C (p.Pro202=) rs762417696 0.00001
NM_000751.3(CHRND):c.624C>T (p.Asn208=) rs1473541483 0.00001
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys) rs144310284 0.00001
NM_000751.3(CHRND):c.84G>A (p.Leu28=) rs1323332117 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.945C>T (p.Phe315=) rs777931139 0.00001
NM_000751.3(CHRND):c.984C>G (p.Val328=) rs763965619 0.00001
NM_000751.3(CHRND):c.1026G>A (p.Val342=) rs1574634359
NM_000751.3(CHRND):c.1047+10T>C rs2106211747
NM_000751.3(CHRND):c.1047+15C>T
NM_000751.3(CHRND):c.1047+17G>A rs997482710
NM_000751.3(CHRND):c.1047+20C>T
NM_000751.3(CHRND):c.1048-12A>G
NM_000751.3(CHRND):c.1056G>T (p.Leu352=)
NM_000751.3(CHRND):c.1068G>A (p.Pro356=)
NM_000751.3(CHRND):c.108G>A (p.Lys36=) rs2106206094
NM_000751.3(CHRND):c.1122G>T (p.Leu374=) rs1438844656
NM_000751.3(CHRND):c.1155C>T (p.Ser385=) rs2106214377
NM_000751.3(CHRND):c.1161C>G (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1161C>T (p.Ala387=) rs376017740
NM_000751.3(CHRND):c.1197C>A (p.Leu399=) rs2106214422
NM_000751.3(CHRND):c.1203C>T (p.Phe401=) rs138405676
NM_000751.3(CHRND):c.1233C>T (p.Ala411=) rs1553575402
NM_000751.3(CHRND):c.1252+16T>A
NM_000751.3(CHRND):c.1252+9C>A
NM_000751.3(CHRND):c.1253-11C>A
NM_000751.3(CHRND):c.1253-11C>G
NM_000751.3(CHRND):c.1253-13C>A
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
NM_000751.3(CHRND):c.1371+17T>C
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
NM_000751.3(CHRND):c.1413C>G (p.Arg471=) rs766187603
NM_000751.3(CHRND):c.1422G>A (p.Leu474=)
NM_000751.3(CHRND):c.1428G>A (p.Val476=)
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
NM_000751.3(CHRND):c.198+12_198+13insA
NM_000751.3(CHRND):c.198+13C>G
NM_000751.3(CHRND):c.199-13C>T
NM_000751.3(CHRND):c.199-8A>G rs2106207309
NM_000751.3(CHRND):c.231G>A (p.Val77=)
NM_000751.3(CHRND):c.243+9G>A rs1015689711
NM_000751.3(CHRND):c.244-18A>T
NM_000751.3(CHRND):c.27G>C (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.27G>T (p.Gly9=) rs554645326
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
NM_000751.3(CHRND):c.31C>T (p.Leu11=) rs1235166420
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
NM_000751.3(CHRND):c.42G>C (p.Leu14=) rs746207666
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
NM_000751.3(CHRND):c.509+11T>C
NM_000751.3(CHRND):c.509+18G>A
NM_000751.3(CHRND):c.510-16C>G
NM_000751.3(CHRND):c.510-17C>A
NM_000751.3(CHRND):c.513C>T (p.Ser171=) rs2106208903
NM_000751.3(CHRND):c.52+15C>A
NM_000751.3(CHRND):c.52+18C>A
NM_000751.3(CHRND):c.52+18C>G
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
NM_000751.3(CHRND):c.53-15G>A
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
NM_000751.3(CHRND):c.582C>G (p.Pro194=) rs773089899
NM_000751.3(CHRND):c.619+10del rs2106209037
NM_000751.3(CHRND):c.619+15C>T
NM_000751.3(CHRND):c.619+16G>A
NM_000751.3(CHRND):c.619+16G>C
NM_000751.3(CHRND):c.619+16G>T rs753490642
NM_000751.3(CHRND):c.663C>T (p.Asn221=)
NM_000751.3(CHRND):c.720C>A (p.Leu240=) rs935801687
NM_000751.3(CHRND):c.726C>T (p.Ile242=) rs1335079963
NM_000751.3(CHRND):c.738C>G (p.Pro246=)
NM_000751.3(CHRND):c.820+13G>A rs763880179
NM_000751.3(CHRND):c.820+13G>T
NM_000751.3(CHRND):c.820+17C>G
NM_000751.3(CHRND):c.820+17C>T
NM_000751.3(CHRND):c.821-19C>T
NM_000751.3(CHRND):c.821-5C>A
NM_000751.3(CHRND):c.888C>T (p.Ser296=) rs2106211370
NM_000751.3(CHRND):c.921C>T (p.Pro307=) rs1691694178
NM_000751.3(CHRND):c.932+17C>A
NM_000751.3(CHRND):c.933-19G>A
NM_000751.3(CHRND):c.933-6C>G
NM_000751.3(CHRND):c.933-7C>T
NM_000751.3(CHRND):c.954G>C (p.Val318=)
NM_000751.3(CHRND):c.96G>T (p.Leu32=) rs1574627606
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
NM_000751.3(CHRND):c.993C>T (p.Leu331=)

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