ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with renal defect

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NC_000002.12:g.110123331A>T
NC_000002.12:g.110205022G>A
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000272.4(NPHP1):c.*250C>T rs150558683
NM_000272.4(NPHP1):c.*322A>G rs886054752
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.1438-4C>T rs151204566
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) rs886054753
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) rs573192954
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) rs138181219
NM_000272.4(NPHP1):c.1929+5A>C rs201030203
NM_000272.4(NPHP1):c.2029G>C (p.Glu677Gln) rs780427871
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) rs200631256
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) rs143163969
NM_000272.4(NPHP1):c.460G>A (p.Gly154Ser) rs769509705
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) rs139787582
NM_000272.4(NPHP1):c.940-5T>C rs201478764
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) rs141763330
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) rs886054754
NM_001128178.3(NPHP1):c.*194T>C
NM_001128178.3(NPHP1):c.*199A>G
NM_001128178.3(NPHP1):c.*238T>C
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)
NM_001128178.3(NPHP1):c.1716+15T>C
NM_001128178.3(NPHP1):c.1717-5T>G
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)
NM_001128178.3(NPHP1):c.771+148G>T
NM_001128178.3(NPHP1):c.771+178C>T
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*107G>A
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091
NM_015272.5(RPGRIP1L):c.*1206C>T
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798
NM_015272.5(RPGRIP1L):c.*125G>T
NM_015272.5(RPGRIP1L):c.*1276G>A
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896
NM_015272.5(RPGRIP1L):c.*133T>A
NM_015272.5(RPGRIP1L):c.*1385A>G
NM_015272.5(RPGRIP1L):c.*1461A>T
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976
NM_015272.5(RPGRIP1L):c.*1510G>A
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475
NM_015272.5(RPGRIP1L):c.*1597G>A
NM_015272.5(RPGRIP1L):c.*159T>G
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905
NM_015272.5(RPGRIP1L):c.*1645A>T
NM_015272.5(RPGRIP1L):c.*1869A>G
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090
NM_015272.5(RPGRIP1L):c.*491C>G
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009
NM_015272.5(RPGRIP1L):c.*53G>A
NM_015272.5(RPGRIP1L):c.*588A>G
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772
NM_015272.5(RPGRIP1L):c.*822A>G
NM_015272.5(RPGRIP1L):c.*846A>T
NM_015272.5(RPGRIP1L):c.*851C>A
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087
NM_015272.5(RPGRIP1L):c.-16A>G
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099
NM_015272.5(RPGRIP1L):c.-8G>T
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)
NM_015272.5(RPGRIP1L):c.230+14G>A
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015272.5(RPGRIP1L):c.530-15T>C
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371
NM_020366.3(RPGRIP1):c.3238+3A>G rs1389509266

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