ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077418.3(TMEM231):c.-15C>T rs138060715
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.140-15C>T rs201518524
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950

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