ClinVar Miner

List of variants in gene TMEM231 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: 15
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HGVS dbSNP
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NM_001077418.3(TMEM231):c.-6G>C rs3743602
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+17T>A rs2738801
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735

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