ClinVar Miner

List of variants reported as pathogenic for Clark-Baraitser syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.2624del (p.Pro875fs) rs2472099492
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) rs747501109
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426

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