ClinVar Miner

List of variants reported as uncertain significance for Clark-Baraitser syndrome by New York Genome Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) rs1305168076 0.00001
NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) rs749300014 0.00001
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) rs539119124 0.00001
NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) rs1046355070 0.00001
NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) rs2060290263
NM_001348323.3(TRIP12):c.3206+408T>G rs1461598857

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