ClinVar Miner

List of variants studied for Senior-Boichis syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.1766C>T (p.Thr589Ile) rs370004832
NM_001142301.1(TMEM67):c.2218G>A (p.Gly740Ser) rs267607116
NM_001142301.1(TMEM67):c.2218G>C (p.Gly740Arg) rs267607116
NM_001142301.1(TMEM67):c.626G>T (p.Trp209Leu) rs267607117
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.349-2A>G rs760040426
NM_016356.5(DCDC2):c.549dup (p.Val184fs)
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162

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