ClinVar Miner

List of variants in gene CUL7 reported as likely benign for 3M syndrome 1

Included ClinVar conditions (1):
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_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007

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