ClinVar Miner

List of variants studied for Senior-Boichis syndrome by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
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_016356.5(DCDC2):c.121_122GT[1] (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.349-2A>G rs760040426
NM_016356.5(DCDC2):c.649A>T (p.Lys217Ter) rs730880299

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