ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 15 by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728 0.00041
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533 0.00025
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_018718.3(CEP41):c.145+6del rs782483563 0.00010
NM_018718.3(CEP41):c.422+6C>T rs199678365 0.00010
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe) rs782137799 0.00010
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429 0.00009
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly) rs781835148 0.00007
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_018718.3(CEP41):c.407G>A (p.Arg136His) rs546106020 0.00006
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716 0.00004
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly) rs782048004 0.00004
NM_018718.3(CEP41):c.716T>C (p.Met239Thr) rs200882016 0.00004
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu) rs200709703 0.00004
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg) rs782392521 0.00004
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser) rs782131552 0.00003
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys) rs138907207 0.00003
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala) rs782769549 0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402 0.00003
NM_018718.3(CEP41):c.725G>A (p.Arg242His) rs191246968 0.00003
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300 0.00003
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr) rs201490201 0.00002
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter) rs139909606 0.00002
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165 0.00002
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser) rs781914996 0.00002
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe) rs782265732 0.00002
NM_018718.3(CEP41):c.653A>C (p.His218Pro) rs527896814 0.00002
NM_018718.3(CEP41):c.664A>G (p.Ile222Val) rs560824415 0.00002
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu) rs782241458 0.00002
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu) rs782704918 0.00002
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln) rs782089459 0.00001
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser) rs782590600 0.00001
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val) rs781832103 0.00001
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro) rs587780311 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_018718.3(CEP41):c.145+3A>G rs782008140 0.00001
NM_018718.3(CEP41):c.145+5G>A rs1413177096 0.00001
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu) rs1554419921 0.00001
NM_018718.3(CEP41):c.164A>T (p.Asp55Val) rs782776244 0.00001
NM_018718.3(CEP41):c.200C>T (p.Ala67Val) rs782426353 0.00001
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly) rs1554417870 0.00001
NM_018718.3(CEP41):c.308C>T (p.Ala103Val) rs369687508 0.00001
NM_018718.3(CEP41):c.565A>G (p.Ile189Val) rs782591147 0.00001
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys) rs782466306 0.00001
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys) rs1554416667 0.00001
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu) rs782815662 0.00001
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp) rs782729874 0.00001
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys) rs782435349 0.00001
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu) rs782474335 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp) rs1554416156
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr) rs184146463
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser) rs184146463
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp) rs2117546322
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro) rs781878740
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup) rs1796754986
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser) rs782211413
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu) rs1797355895
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg) rs1797203213
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val) rs1797171250
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys) rs1797171055
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro) rs946180222
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
NM_018718.3(CEP41):c.277G>C (p.Asp93His) rs1797169504
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys) rs2117574982
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr) rs149373377
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala) rs149373377
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn) rs150251054
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
NM_018718.3(CEP41):c.320C>T (p.Ala107Val) rs141025803
NM_018718.3(CEP41):c.33+6G>A rs1798137622
NM_018718.3(CEP41):c.33G>A (p.Glu11=) rs2117739865
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg) rs782235279
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr) rs782508627
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln) rs782614895
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+5T>C
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn) rs782614635
NM_018718.3(CEP41):c.42G>T (p.Met14Ile) rs1797714880
NM_018718.3(CEP41):c.437T>C (p.Val146Ala) rs1170058733
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile) rs2117565108
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser) rs1796890244
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu) rs782587361
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser) rs201818904
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala) rs1796855782
NM_018718.3(CEP41):c.610A>G (p.Met204Val) rs782188831
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe) rs1796853863
NM_018718.3(CEP41):c.642+5C>T rs2117560304
NM_018718.3(CEP41):c.642T>C (p.Tyr214=) rs1796853773
NM_018718.3(CEP41):c.643-9del
NM_018718.3(CEP41):c.653A>G (p.His218Arg) rs527896814
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg) rs1472855500
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly) rs1796819026
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr) rs2117555473
NM_018718.3(CEP41):c.717G>T (p.Met239Ile) rs2117555395
NM_018718.3(CEP41):c.757+5G>A rs909436822
NM_018718.3(CEP41):c.769T>G (p.Leu257Val) rs2117552967
NM_018718.3(CEP41):c.773C>T (p.Ala258Val) rs1050700461
NM_018718.3(CEP41):c.798T>G (p.Ile266Met) rs2117552869
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile) rs2117552856
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser) rs2117552201
NM_018718.3(CEP41):c.928A>G (p.Ile310Val) rs1308536722
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro) rs2117551648
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
NM_018718.3(CEP41):c.973+404_1077del rs1796755672
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln) rs782387467
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu) rs782387467
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro) rs1796760925

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