ClinVar Miner

List of variants in gene TMEM237 studied for Joubert syndrome with ocular defect

Included ClinVar conditions (7):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.2(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.2(TMEM237):c.395+7A>G rs78297522
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.2(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.2(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.2(TMEM237):c.677+1G>T rs793888505
NM_001044385.2(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.2(TMEM237):c.943+1G>T rs748510210
NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
NM_001044385.3(TMEM237):c.80-2A>G
NM_152388.3(TMEM237):c.1042dup (p.Gln348Profs) rs751952525

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