ClinVar Miner

List of variants reported as benign for 3-M syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
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_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
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_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
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_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
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_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_014780.4(CUL7):c.-300G>C rs80311039 0.00120
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
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_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
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_014780.4(CUL7):c.-269A>G rs377101095 0.00037
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_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_014780.5(CUL7):c.4295-14C>A rs144154816
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.-43del rs747020402
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.4067-11G>T rs1983211

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