ClinVar Miner

List of variants studied for 3-M syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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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.1273dup (p.Thr425fs) rs762334954 0.00009
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) rs748555538 0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) rs121918229 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014780.5(CUL7):c.2398-2A>G
NM_014780.5(CUL7):c.3645+1G>A
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) rs1340929933
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) rs559473497
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.860del (p.Gln287fs) rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)

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