ClinVar Miner

List of variants reported as likely pathogenic for 3-M syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_032040.5(CCDC8):c.963del (p.Ala323fs) rs746873023 0.00004
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) rs1295466248 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.5(CUL7):c.1563_1569+5del
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
NM_014780.5(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.5(CUL7):c.2398-2A>G
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
NM_014780.5(CUL7):c.2862+1G>A
NM_014780.5(CUL7):c.2862+2T>G rs2150321832
NM_014780.5(CUL7):c.2863-1G>C
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) rs2150320060
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) rs1561881909
NM_014780.5(CUL7):c.3247del (p.Gln1083fs) rs1763636120
NM_014780.5(CUL7):c.3295del (p.Leu1099fs) rs2150317151
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_014780.5(CUL7):c.3645+1G>A
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) rs1561875767
NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs) rs766471384
NM_014780.5(CUL7):c.4115del (p.Glu1372fs) rs1561873941
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) rs1340929933
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del rs760929207
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) rs1696644780
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.4085del (p.Leu1362fs) rs2106028466
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) rs559473497
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs) rs1973248576
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) rs774464372
NM_032040.5(CCDC8):c.860del (p.Gln287fs) rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)

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