ClinVar Miner

List of variants reported as pathogenic for 3-M syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) rs121918228 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) rs730880262 0.00001
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.1570-3C>A rs730880263
NM_014780.5(CUL7):c.2064-1G>A rs2150328634
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs) rs1064792895
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014780.5(CUL7):c.3173-1G>C rs864309521
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) rs1764489246
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) rs377169342
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) rs730880261
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) rs2150304168
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs) rs2106102918
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) rs1335171880
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) rs121918216
NM_015311.3(OBSL1):c.2164del (p.Asp722fs) rs1696816233
NM_015311.3(OBSL1):c.2474del (p.Val825fs) rs1057518716
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) rs1559160379
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) rs1553538488
NM_015311.3(OBSL1):c.848del (p.Gly283fs) rs773698181
NM_015311.3(OBSL1):c.[1273dup;836G>A]
NM_015311.3(OBSL1):c.[1273dup];[35dup]
NM_032040.5(CCDC8):c.612dup (p.Lys205fs) rs752254407
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748
NM_032040.5(CCDC8):c.84dup (p.Lys29Ter) rs1568590155

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