ClinVar Miner

List of variants in gene TMEM237 reported as pathogenic for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.553+1G>A
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
NM_001044385.3(TMEM237):c.677+1G>A rs793888505
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.869+1del
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384
NM_001044385.3(TMEM237):c.943+1G>T rs748510210

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