ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with ocular defect by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000007.13:g.(?_130038777_130039476del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
NM_001044385.3(TMEM237):c.137-3T>C
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
NM_001044385.3(TMEM237):c.553+2dup
NM_001044385.3(TMEM237):c.553+3dup
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
NM_001044385.3(TMEM237):c.869+4A>G
NM_001044385.3(TMEM237):c.869+5T>C
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)
NM_001077418.3(TMEM231):c.-40C>G rs114889548
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.582+6A>G rs376300743
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
NM_018718.3(CEP41):c.145+3A>G
NM_018718.3(CEP41):c.145+5G>A
NM_018718.3(CEP41):c.145+6del
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
NM_018718.3(CEP41):c.643-6T>A
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.973+404_1077del
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
Single allele

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