ClinVar Miner

List of variants in gene TMEM237 reported as benign 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: 19
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HGVS dbSNP
NM_001044385.3(TMEM237):c.*1489G>C
NM_001044385.3(TMEM237):c.*564T>C
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-14C>T rs74411816
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.554-15G>A rs144051344
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.80-18dup
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435

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