ClinVar Miner

List of variants reported as likely pathogenic for Senior-Boichis syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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.970dup (p.Ala324fs) rs774115675
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889

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