ClinVar Miner

List of variants reported as likely pathogenic for Senior-Boichis syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs) rs1760494153
NM_016356.5(DCDC2):c.549dup (p.Val184fs) rs1581640646
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr) rs1813039419

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