ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 20; Meckel syndrome, type 11

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221 0.00071
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253 0.00024
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr) rs201412708 0.00017
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val) rs866563020 0.00015
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=) rs375077045 0.00009
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=) rs758878104 0.00009
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln) rs368402335 0.00006
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met) rs762041003 0.00006
NM_001077418.3(TMEM231):c.582+6A>G rs376300743 0.00006
NM_001077418.2(TMEM231):c.-62A>C rs964025567 0.00005
NM_001077418.3(TMEM231):c.140-33C>T rs901311435 0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098 0.00004
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln) rs756494100 0.00004
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr) rs770469234 0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met) rs373660568 0.00004
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His) rs753292136 0.00004
NM_001077418.2(TMEM231):c.-46G>A rs752769188 0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser) rs372775075 0.00003
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn) rs769321473 0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln) rs1033608835 0.00003
NM_001077418.3(TMEM231):c.-17G>A rs768513169 0.00002
NM_001077418.3(TMEM231):c.139+17C>T rs759518508 0.00002
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln) rs771783989 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser) rs775968168 0.00002
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=) rs774761408 0.00002
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr) rs768932063 0.00002
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val) rs778298588 0.00002
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys) rs374279951 0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr) rs775383043 0.00002
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu) rs761280513 0.00002
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp) rs770715825 0.00002
NM_001077418.2(TMEM231):c.-44C>A rs1419518232 0.00001
NM_001077418.3(TMEM231):c.-12C>G rs745498623 0.00001
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521 0.00001
NM_001077418.3(TMEM231):c.139+23G>A rs770598456 0.00001
NM_001077418.3(TMEM231):c.139+25C>T rs1474874368 0.00001
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg) rs766492182 0.00001
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val) rs1309156955 0.00001
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn) rs759954710 0.00001
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg) rs1255071095 0.00001
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro) rs1202833405 0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val) rs750935858 0.00001
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser) rs566395744 0.00001
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser) rs778407563 0.00001
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg) rs763194213 0.00001
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met) rs745485432 0.00001
NM_001077418.3(TMEM231):c.665-3C>T rs780063686 0.00001
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile) rs746055228 0.00001
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189 0.00001
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=) rs746685376 0.00001
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu) rs1230743826 0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val) rs768632156 0.00001
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln) rs746970206 0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=) rs1435643293 0.00001
NC_000016.9:g.(?_75573892)_(75574092_?)del
NC_000016.9:g.(?_75573892)_(75579872_?)dup
NC_000016.9:g.(?_75579704)_(75590169_?)dup
NC_000016.9:g.(?_75589682)_(75690509_?)dup
NM_001077418.2(TMEM231):c.-53A>G rs1176007249
NM_001077418.2(TMEM231):c.-55C>T rs2151711350
NM_001077418.2(TMEM231):c.-59G>A
NM_001077418.2(TMEM231):c.-61T>G
NM_001077418.3(TMEM231):c.-16C>A
NM_001077418.3(TMEM231):c.-17G>T rs768513169
NM_001077418.3(TMEM231):c.-22G>C
NM_001077418.3(TMEM231):c.-25C>T
NM_001077418.3(TMEM231):c.-38T>C rs758946916
NM_001077418.3(TMEM231):c.-41A>C rs765256905
NM_001077418.3(TMEM231):c.-8C>T rs780752063
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
NM_001077418.3(TMEM231):c.139+14G>A
NM_001077418.3(TMEM231):c.139+28G>A rs370005084
NM_001077418.3(TMEM231):c.139+44G>T
NM_001077418.3(TMEM231):c.140-10T>C rs2151710900
NM_001077418.3(TMEM231):c.140-39G>A
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu) rs2151710882
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys) rs772102451
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp) rs1350319069
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val) rs2151710764
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val) rs2080804915
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn) rs753709447
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile) rs2151710524
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=) rs2151710504
NM_001077418.3(TMEM231):c.310-18C>T
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly) rs1415195367
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg) rs1202833405
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
NM_001077418.3(TMEM231):c.438+3G>A rs1183368030
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg) rs2080678228
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe) rs1280264089
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu) rs2151702535
NM_001077418.3(TMEM231):c.583-3C>G
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg) rs2080639506
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu) rs397514753
NM_001077418.3(TMEM231):c.665-19_665-13del
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val) rs1567441268
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr) rs139236786
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu) rs1277858041
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G rs2080625882
NM_001077418.3(TMEM231):c.770+6C>G
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His) rs758048238
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu) rs2151697774
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys) rs797044954
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=) rs2080604225
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr) rs2151697600
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
Single allele

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.