ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 17

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter) rs1200574734 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter) rs1285358729 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter) rs1482303814 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) rs2150954061
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=) rs753791198
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001384732.1(CPLANE1):c.834+1G>A rs1581014582
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs) rs1579740974
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.969+2T>G
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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