ClinVar Miner

List of variants in gene COLEC11 reported as uncertain significance for 3MC syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser) rs748736842 0.00003
NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser) rs773032227 0.00002
NM_024027.5(COLEC11):c.284G>T (p.Gly95Val)
NM_024027.5(COLEC11):c.28G>T (p.Val10Phe) rs147362981
NM_024027.5(COLEC11):c.440G>A (p.Arg147His)
NM_024027.5(COLEC11):c.508T>C (p.Cys170Arg)

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