ClinVar Miner

List of variants reported as uncertain significance for Clark-Baraitser syndrome by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) rs780999801 0.00003
NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) rs779389307 0.00002
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) rs1157793506 0.00001
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) rs764732335
NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) rs1428800056
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) rs2036612429
NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)

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