ClinVar Miner

List of variants studied for Mucolipidosis type IV by Illumina Laboratory Services, Illumina

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_006702.5(PNPLA6):c.-261T>C rs560849 0.29546
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) rs612862 0.28776
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838 0.01999
NM_020533.3(MCOLN1):c.405+13G>A rs73488492 0.01978
NM_006702.5(PNPLA6):c.-214C>T rs141371215 0.01588
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
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.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
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.1584C>T (p.Gly528=) rs145386883 0.00078
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.589C>T (p.Pro197Ser) rs145706318 0.00039
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.-87A>T rs886054692 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_020533.3(MCOLN1):c.*180T>C rs774371785 0.00012
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.24C>T (p.Arg8=) rs886527724 0.00011
NM_020533.3(MCOLN1):c.213C>T (p.Val71=) rs201157863 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
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.949G>A (p.Ala317Thr) rs137887342 0.00006
NM_020533.3(MCOLN1):c.490G>A (p.Ala164Thr) rs199940548 0.00005
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.610C>T (p.Pro204Ser) rs886054694 0.00004
NM_020533.3(MCOLN1):c.984+13C>T rs376284815 0.00004
NM_020533.3(MCOLN1):c.772G>A (p.Val258Ile) rs369431026 0.00003
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.*22C>T rs770355146 0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=) rs1453967813 0.00001
NM_020533.3(MCOLN1):c.1516A>G (p.Ile506Val) rs755659323 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.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=) rs773903184 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_020533.2(MCOLN1):c.*227G>C rs2022720712
NM_020533.3(MCOLN1):c.-102T>G rs2022509435
NM_020533.3(MCOLN1):c.-88G>T rs886054691
NM_020533.3(MCOLN1):c.1006C>T (p.Arg336Trp) rs886054695
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.1156T>G (p.Cys386Gly) rs775016540
NM_020533.3(MCOLN1):c.1255C>T (p.Arg419Trp) rs746356009
NM_020533.3(MCOLN1):c.1360-10C>T rs752059298
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) rs2022699936
NM_020533.3(MCOLN1):c.1707-14C>T rs541186661
NM_020533.3(MCOLN1):c.405+6G>C rs886054693
NM_020533.3(MCOLN1):c.611C>G (p.Pro204Arg) rs932130349
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg) rs113261161
NM_020533.3(MCOLN1):c.985-15G>C rs199860642

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