ClinVar Miner

List of variants studied for 3-M syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs) rs1973248576
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) rs774464372

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