ClinVar Miner

List of variants studied for oculodentodigital dysplasia, autosomal recessive by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000165.5(GJA1):c.724G>A (p.Gly242Arg) rs138386744 0.00026
NM_000165.5(GJA1):c.1050A>G (p.Gly350=) rs147277470 0.00020
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000165.5(GJA1):c.327A>G (p.Lys109=) rs145279962 0.00018
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.1132G>A (p.Asp378Asn) rs553879521 0.00017
NM_000165.5(GJA1):c.309A>G (p.Glu103=) rs544249730 0.00017
NM_000165.5(GJA1):c.411C>T (p.Tyr137=) rs201088822 0.00017
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_000165.5(GJA1):c.432G>A (p.Lys144=) rs201994305 0.00014
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000165.5(GJA1):c.784T>C (p.Ser262Pro) rs149442143 0.00013
NM_000165.5(GJA1):c.189T>C (p.Asn63=) rs139688042 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000165.5(GJA1):c.825C>T (p.Thr275=) rs777305726 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000165.5(GJA1):c.1098A>G (p.Arg366=) rs372862876 0.00007
NM_000165.5(GJA1):c.99A>G (p.Arg33=) rs752719742 0.00007
NM_000165.5(GJA1):c.508T>G (p.Leu170Val) rs377077470 0.00006
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000165.5(GJA1):c.868A>G (p.Thr290Ala) rs562513101 0.00004
NM_000165.5(GJA1):c.365A>G (p.Asn122Ser) rs769704488 0.00003
NM_000165.5(GJA1):c.1065A>G (p.Pro355=) rs1260325021 0.00002
NM_000165.5(GJA1):c.120G>A (p.Ala40=) rs1265524797 0.00002
NM_000165.5(GJA1):c.624C>T (p.Ile208=) rs530633057 0.00002
NM_000165.5(GJA1):c.885T>C (p.Asn295=) rs370436837 0.00002
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu) rs764494850 0.00001
NM_000165.5(GJA1):c.1108C>T (p.Arg370Cys) rs994770541 0.00001
NM_000165.5(GJA1):c.1147T>C (p.Ter383Gln) rs751144223 0.00001
NM_000165.5(GJA1):c.150T>A (p.Ser50=) rs1451772901 0.00001
NM_000165.5(GJA1):c.15C>T (p.Ser5=) rs758641783 0.00001
NM_000165.5(GJA1):c.18C>T (p.Ala6=) rs200520137 0.00001
NM_000165.5(GJA1):c.192C>T (p.Val64=) rs1390540506 0.00001
NM_000165.5(GJA1):c.353C>T (p.Thr118Ile) rs1773903009 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000165.5(GJA1):c.66G>A (p.Gly22=) rs754592117 0.00001
NM_000165.5(GJA1):c.690T>C (p.Tyr230=) rs775689247 0.00001
NM_000165.5(GJA1):c.715C>A (p.Arg239=) rs1248411159 0.00001
NM_000165.5(GJA1):c.743A>G (p.His248Arg) rs747365823 0.00001
NM_000165.5(GJA1):c.748A>G (p.Thr250Ala) rs769333167 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg) rs555927773 0.00001
NM_000165.5(GJA1):c.896G>A (p.Arg299His) rs778457698 0.00001
NM_000165.5(GJA1):c.905A>G (p.Asn302Ser) rs746806096 0.00001
NM_000165.5(GJA1):c.962G>T (p.Gly321Val) rs1294212392 0.00001
NM_000165.5(GJA1):c.968C>T (p.Ala323Val) rs756523929 0.00001
NC_000006.11:g.(?_121401917)_(121769142_?)del
NC_000006.11:g.(?_121767974)_(121769162_?)dup
NM_000165.5(GJA1):c.103C>T (p.Leu35=)
NM_000165.5(GJA1):c.1055A>T (p.Glu352Val)
NM_000165.5(GJA1):c.1075G>A (p.Val359Met)
NM_000165.5(GJA1):c.1103G>A (p.Ser368Asn) rs1064796878
NM_000165.5(GJA1):c.1114A>G (p.Ser372Gly)
NM_000165.5(GJA1):c.1137C>A (p.Asp379Glu)
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
NM_000165.5(GJA1):c.1146C>T (p.Ile382=)
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.119_121del (p.Ala40del) rs2114282978
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) rs1554200995
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)
NM_000165.5(GJA1):c.158G>A (p.Arg53His)
NM_000165.5(GJA1):c.162dup (p.Asn55Ter) rs2114283056
NM_000165.5(GJA1):c.180T>C (p.Gly60=)
NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
NM_000165.5(GJA1):c.189T>G (p.Asn63Lys) rs139688042
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) rs2114283106
NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)
NM_000165.5(GJA1):c.219T>C (p.Ser73=)
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) rs1773901440
NM_000165.5(GJA1):c.252T>A (p.Phe84Leu) rs1773901515
NM_000165.5(GJA1):c.256T>A (p.Ser86Thr) rs2114283193
NM_000165.5(GJA1):c.264C>T (p.Pro88=)
NM_000165.5(GJA1):c.283C>T (p.His95Tyr)
NM_000165.5(GJA1):c.287T>C (p.Val96Ala)
NM_000165.5(GJA1):c.296T>A (p.Val99Glu) rs1554201009
NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) rs1554201011
NM_000165.5(GJA1):c.317T>C (p.Leu106Pro) rs2114283321
NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
NM_000165.5(GJA1):c.330G>A (p.Glu110=)
NM_000165.5(GJA1):c.357T>C (p.Asp119=) rs1773903093
NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)
NM_000165.5(GJA1):c.361G>A (p.Val121Ile)
NM_000165.5(GJA1):c.366T>C (p.Asn122=) rs2114283391
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) rs1554201017
NM_000165.5(GJA1):c.393G>A (p.Glu131=)
NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) rs1554201018
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.413G>T (p.Gly138Val)
NM_000165.5(GJA1):c.430A>T (p.Lys144Ter)
NM_000165.5(GJA1):c.445G>A (p.Gly149Arg)
NM_000165.5(GJA1):c.450G>T (p.Gly150=) rs752221637
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000165.5(GJA1):c.466A>G (p.Ile156Val)
NM_000165.5(GJA1):c.489T>A (p.Ser163=)
NM_000165.5(GJA1):c.492C>T (p.Ile164=)
NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)
NM_000165.5(GJA1):c.501G>A (p.Val167=)
NM_000165.5(GJA1):c.502G>A (p.Ala168Thr) rs2228961
NM_000165.5(GJA1):c.503C>G (p.Ala168Gly)
NM_000165.5(GJA1):c.526A>G (p.Ile176Val) rs878853696
NM_000165.5(GJA1):c.528C>A (p.Ile176=)
NM_000165.5(GJA1):c.528C>G (p.Ile176Met)
NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) rs1773898086
NM_000165.5(GJA1):c.545G>A (p.Ser182Asn)
NM_000165.5(GJA1):c.565del (p.Arg189fs) rs1582558420
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) rs1773907180
NM_000165.5(GJA1):c.586G>A (p.Val196Met)
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000165.5(GJA1):c.606C>A (p.Arg202=)
NM_000165.5(GJA1):c.633C>T (p.Ile211=) rs2114283896
NM_000165.5(GJA1):c.634T>A (p.Phe212Ile) rs1773908003
NM_000165.5(GJA1):c.643G>A (p.Val215Met) rs1390364475
NM_000165.5(GJA1):c.645G>A (p.Val215=)
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) rs1773898234
NM_000165.5(GJA1):c.651C>A (p.Ser217=)
NM_000165.5(GJA1):c.654G>A (p.Leu218=)
NM_000165.5(GJA1):c.655G>A (p.Val219Met)
NM_000165.5(GJA1):c.655G>C (p.Val219Leu)
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000165.5(GJA1):c.682C>T (p.Leu228Phe)
NM_000165.5(GJA1):c.689del (p.Tyr230fs) rs2114283978
NM_000165.5(GJA1):c.711G>C (p.Lys237Asn)
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.718_719delinsAA (p.Val240Asn) rs2114284069
NM_000165.5(GJA1):c.732C>A (p.Ser244Arg) rs754052391
NM_000165.5(GJA1):c.733G>A (p.Asp245Asn)
NM_000165.5(GJA1):c.735C>T (p.Asp245=) rs779133243
NM_000165.5(GJA1):c.736C>A (p.Pro246Thr)
NM_000165.5(GJA1):c.746C>T (p.Ala249Val)
NM_000165.5(GJA1):c.747G>A (p.Ala249=)
NM_000165.5(GJA1):c.747G>C (p.Ala249=)
NM_000165.5(GJA1):c.755G>A (p.Gly252Asp) rs1773910782
NM_000165.5(GJA1):c.759G>T (p.Ala253=)
NM_000165.5(GJA1):c.761T>C (p.Leu254Pro) rs1374645750
NM_000165.5(GJA1):c.81A>G (p.Ser27=)
NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)
NM_000165.5(GJA1):c.831C>T (p.Pro277=)
NM_000165.5(GJA1):c.832C>T (p.Leu278Phe)
NM_000165.5(GJA1):c.847CCT[1] (p.Pro284del)
NM_000165.5(GJA1):c.851C>T (p.Pro284Leu)
NM_000165.5(GJA1):c.852T>G (p.Pro284=)
NM_000165.5(GJA1):c.861G>T (p.Lys287Asn)
NM_000165.5(GJA1):c.867T>A (p.Val289=)
NM_000165.5(GJA1):c.875A>G (p.Asp292Gly)
NM_000165.5(GJA1):c.875A>T (p.Asp292Val)
NM_000165.5(GJA1):c.882C>G (p.Asn294Lys)
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del) rs976659652
NM_000165.5(GJA1):c.895C>A (p.Arg299Ser) rs748954821
NM_000165.5(GJA1):c.895C>T (p.Arg299Cys) rs748954821
NM_000165.5(GJA1):c.896G>T (p.Arg299Leu) rs778457698
NM_000165.5(GJA1):c.908A>G (p.Lys303Arg)
NM_000165.5(GJA1):c.927C>T (p.Asn309=)
NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)
NM_000165.5(GJA1):c.942T>C (p.Ser314=)
NM_000165.5(GJA1):c.952A>C (p.Asn318His)
NM_000165.5(GJA1):c.954T>C (p.Asn318=)
NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)
NM_000165.5(GJA1):c.962G>A (p.Gly321Glu) rs1294212392
NM_000165.5(GJA1):c.969G>A (p.Ala323=)
NM_000165.5(GJA1):c.971G>A (p.Gly324Glu)
NM_000165.5(GJA1):c.977C>T (p.Thr326Ile)
NM_000165.5(GJA1):c.981C>G (p.Ile327Met)
NM_000165.5(GJA1):c.992A>T (p.His331Leu)

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