ClinVar Miner

List of variants reported as benign for Meckel syndrome, type 11

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup

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