ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
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.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_014780.5(CUL7):c.4295-14C>A rs144154816

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