ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_000751.3(CHRND):c.*1032C>T rs886055786
NM_000751.3(CHRND):c.*1194C>T rs778967055
NM_000751.3(CHRND):c.*1240T>C rs77032539
NM_000751.3(CHRND):c.*1313G>A rs554703726
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*145C>G rs530039427
NM_000751.3(CHRND):c.*149A>G rs114315112
NM_000751.3(CHRND):c.*196G>A rs886055783
NM_000751.3(CHRND):c.*227G>A rs766592644
NM_000751.3(CHRND):c.*379C>T rs552885486
NM_000751.3(CHRND):c.*449C>T rs886055784
NM_000751.3(CHRND):c.*580C>T rs371903548
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_000751.3(CHRND):c.*635C>T rs747270172
NM_000751.3(CHRND):c.*641C>T rs190008760
NM_000751.3(CHRND):c.*676G>A rs183259359
NM_000751.3(CHRND):c.*92C>T rs561266227
NM_000751.3(CHRND):c.*942C>T rs571263995
NM_000751.3(CHRND):c.1252+10C>T rs373581541
NM_000751.3(CHRND):c.1253-10T>G rs199508773
NM_000751.3(CHRND):c.1253-9C>T rs2853458
NM_000751.3(CHRND):c.1359C>T (p.Asn453=) rs776972228
NM_000751.3(CHRND):c.1473G>T (p.Gln491His) rs886055781
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) rs371376389
NM_001039523.3(CHRNA1):c.*275A>G rs886055148
NM_001039523.3(CHRNA1):c.*288G>A rs564090863
NM_001039523.3(CHRNA1):c.*358C>T rs886055147
NM_001039523.3(CHRNA1):c.*411G>A rs560280191
NM_001039523.3(CHRNA1):c.*414T>A rs886055146
NM_001039523.3(CHRNA1):c.*422G>T rs184095877
NM_001039523.3(CHRNA1):c.*461A>T rs542750994
NM_001039523.3(CHRNA1):c.-37A>G rs182459320
NM_001039523.3(CHRNA1):c.1077+9G>A rs368959759
NM_001039523.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_001039523.3(CHRNA1):c.1308G>T (p.Glu436Asp) rs61737716
NM_001039523.3(CHRNA1):c.1322C>T (p.Ala441Val) rs367751078
NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) rs17838545
NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) rs146899588
NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) rs151081792
NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) rs771587252
NM_001039523.3(CHRNA1):c.224G>A (p.Arg75His) rs147488907
NM_001039523.3(CHRNA1):c.342A>G (p.Pro114=) rs886055150
NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) rs140268343
NM_001039523.3(CHRNA1):c.680G>A (p.Arg227Gln) rs769337073
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039523.3(CHRNA1):c.780C>A (p.Ile260=) rs143252724
NM_001039523.3(CHRNA1):c.854-12_854-11del rs1491478953
NM_001039523.3(CHRNA1):c.854-12del rs67309103
NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) rs374093236
NM_005199.5(CHRNG):c.*126C>T rs369614677
NM_005199.5(CHRNG):c.*131C>T rs566877095
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*589_*590dup rs1553578775
NM_005199.5(CHRNG):c.*591_*592insTT rs1553578776
NM_005199.5(CHRNG):c.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332
NM_005199.5(CHRNG):c.1036-8CT[2] rs3217418
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827
NM_005199.5(CHRNG):c.806-13C>T rs375760045
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104

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.