ClinVar Miner

List of variants studied for Joubert syndrome and related disorders by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576

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