ClinVar Miner

Variants in gene MCOLN1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
810 76 0 42 47 0 5 89

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 30 2 0 0
likely pathogenic 30 0 5 0 0
uncertain significance 2 5 0 44 6
likely benign 0 0 44 0 12
benign 0 0 6 12 0

All variants with conflicting interpretations #

Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01563
NM_020533.3(MCOLN1):c.777+99G>A rs12462124 0.01482
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_020533.3(MCOLN1):c.680+14A>T rs151281315 0.00709
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00308
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) rs141240937 0.00119
NM_020533.3(MCOLN1):c.1359+11C>A rs193053180 0.00106
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00073
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn) rs141168886 0.00065
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val) rs142259322 0.00046
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00045
NM_020533.3(MCOLN1):c.1359+13C>T rs143068910 0.00022
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00015
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633 0.00013
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619 0.00013
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile) rs771026953 0.00011
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=) rs146187044 0.00011
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=) rs201232288 0.00009
NM_020533.3(MCOLN1):c.213C>T (p.Val71=) rs201157863 0.00009
NM_020533.3(MCOLN1):c.89C>T (p.Pro30Leu) rs200297215 0.00009
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg) rs183077397 0.00008
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.1040G>A (p.Arg347Gln) rs549648443 0.00006
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=) rs200484869 0.00006
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.838C>T (p.His280Tyr) rs762770801 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.984+13C>T rs376284815 0.00003
NM_020533.3(MCOLN1):c.1237-12G>A rs763017059 0.00002
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) rs567995024 0.00002
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met) rs750170007 0.00002
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) rs535003448 0.00001
NM_020533.3(MCOLN1):c.1135-14G>A rs2022615978 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.1706+11C>T rs756087583 0.00001
NM_020533.3(MCOLN1):c.1707-7C>T rs371588106 0.00001
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=) rs1182165362 0.00001
NM_020533.3(MCOLN1):c.32-12C>A rs1372906524 0.00001
NM_020533.3(MCOLN1):c.405+1G>A rs148748724 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=) rs773903184 0.00001
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=) rs774271399 0.00001
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=) rs757935075 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713 0.00001
NM_020533.3(MCOLN1):c.777+13G>A rs775042317 0.00001
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=) rs746629838 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020533.3(MCOLN1):c.984+1G>A rs767950930 0.00001
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1329C>T (p.Gly443=) rs2146025487
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1363C>T (p.Arg455Cys) rs747683527
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) rs2022699936
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter) rs776845391
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter) rs1368027694
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter) rs765577483
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) rs751298168
NM_020533.3(MCOLN1):c.1707-14C>T rs541186661
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=) rs1481445686
NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter) rs2512469342
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_020533.3(MCOLN1):c.594del (p.Glu199fs) rs1349755445
NM_020533.3(MCOLN1):c.608del (p.Pro203fs) rs2512470541
NM_020533.3(MCOLN1):c.615dup (p.Ser206fs) rs886041533
NM_020533.3(MCOLN1):c.680+1G>A rs1599254152
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.785T>C (p.Phe262Ser) rs2022599557
NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter) rs2512471493
NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter) rs1294526096
NM_020533.3(MCOLN1):c.878-2A>G
NM_020533.3(MCOLN1):c.900G>C (p.Leu300=) rs1568399448
NM_020533.3(MCOLN1):c.95dup (p.Pro33fs) rs2022547761
NM_020533.3(MCOLN1):c.985-15G>C rs199860642

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