ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (87):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter) rs1359437084 0.00001
NM_014804.3(KIAA0753):c.1546-3C>A rs886038201 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) rs1057516038
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576

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