ClinVar Miner

Variants in gene MCOLN1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 38
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
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.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.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.984+13C>T rs376284815 0.00004
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.815C>G (p.Pro272Arg) rs183077397 0.00002
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.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.777+13G>A rs775042317 0.00001
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=) rs746629838 0.00001
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1135-14G>A rs2022615978
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.985-15G>C rs199860642

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