ClinVar Miner

Variants in gene MCOLN1 with conflicting interpretations

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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:
ClinVar version:

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
702 68 0 29 41 0 4 70

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 18 1 0 0
likely pathogenic 18 0 4 0 0
uncertain significance 1 4 0 38 6
likely benign 0 0 38 0 11
benign 0 0 6 11 0

All variants with conflicting interpretations #

Total variants: 70
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.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 0.00315
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 0.00078
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 0.00042
NM_020533.3(MCOLN1):c.1359+13C>T rs143068910 0.00022
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633 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.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=) rs567995024 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.984+13C>T rs376284815 0.00004
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=) rs535003448 0.00002
NM_020533.3(MCOLN1):c.1237-12G>A rs763017059 0.00002
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met) rs750170007 0.00002
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg) rs183077397 0.00002
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 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.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1135-14G>A rs2022615978
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) rs2022699936
NM_020533.3(MCOLN1):c.1707-14C>T rs541186661
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=) rs1481445686
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.608del (p.Pro203fs)
NM_020533.3(MCOLN1):c.680+1G>A rs1599254152
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.985-15G>C rs199860642

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