ClinVar Miner

List of variants in gene GJA1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.724G>A (p.Gly242Arg) rs138386744 0.00026
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.784T>C (p.Ser262Pro) rs149442143 0.00013
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.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.353C>T (p.Thr118Ile) rs1773903009 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.(?_121767974)_(121769162_?)dup
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.119_121del (p.Ala40del) rs2114282978
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
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.184G>A (p.Glu62Lys)
NM_000165.5(GJA1):c.189T>G (p.Asn63Lys) rs139688042
NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
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.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.317T>C (p.Leu106Pro) rs2114283321
NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)
NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)
NM_000165.5(GJA1):c.361G>A (p.Val121Ile)
NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)
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.457C>T (p.Arg153Ter)
NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)
NM_000165.5(GJA1):c.466A>G (p.Ile156Val)
NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)
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>G (p.Ile176Met)
NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)
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.634T>A (p.Phe212Ile) rs1773908003
NM_000165.5(GJA1):c.643G>A (p.Val215Met) rs1390364475
NM_000165.5(GJA1):c.655G>A (p.Val219Met)
NM_000165.5(GJA1):c.655G>C (p.Val219Leu)
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.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.736C>A (p.Pro246Thr)
NM_000165.5(GJA1):c.746C>T (p.Ala249Val)
NM_000165.5(GJA1):c.755G>A (p.Gly252Asp) rs1773910782
NM_000165.5(GJA1):c.761T>C (p.Leu254Pro) rs1374645750
NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)
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.861G>T (p.Lys287Asn)
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.932del (p.Ala311fs) rs778110855
NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)
NM_000165.5(GJA1):c.952A>C (p.Asn318His)
NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)
NM_000165.5(GJA1):c.962G>A (p.Gly321Glu) rs1294212392
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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