ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 7 by Illumina Laboratory Services, Illumina

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08088
NM_001371596.2(MFSD8):c.*533G>A rs11940642 0.08086
NM_001371596.2(MFSD8):c.*2405G>A rs11938181 0.02850
NM_001371596.2(MFSD8):c.*2465A>G rs72616968 0.02684
NM_001358451.3(ABHD18):c.-18+315C>G rs74561222 0.01575
NM_001371596.2(MFSD8):c.*1794G>T rs79783621 0.01573
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_001371596.2(MFSD8):c.*2464C>T rs114689638 0.00731
NM_001371596.2(MFSD8):c.*258A>C rs151190415 0.00610
NM_001371596.2(MFSD8):c.*675T>C rs148636320 0.00481
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_001371596.2(MFSD8):c.*2689T>C rs189321020 0.00326
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001371596.2(MFSD8):c.*427G>C rs142139835 0.00226
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_001371596.2(MFSD8):c.*2613T>C rs539367239 0.00150
NM_001371596.2(MFSD8):c.*2021C>T rs780466040 0.00091
NM_001371596.2(MFSD8):c.*2006A>C rs181240021 0.00090
NM_001371596.2(MFSD8):c.*1147G>A rs189901544 0.00082
NM_001371596.2(MFSD8):c.*1515T>A rs74590222 0.00075
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=) rs138072045 0.00073
NM_001371596.2(MFSD8):c.*463A>T rs181696565 0.00054
NM_001371596.2(MFSD8):c.*1058A>G rs531103173 0.00047
NM_001371596.2(MFSD8):c.*2309G>A rs753944036 0.00034
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.*2104T>C rs139930263 0.00026
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val) rs77098161 0.00013
NM_001371596.2(MFSD8):c.*1680A>G rs1048664726 0.00012
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039 0.00010
NM_001371596.2(MFSD8):c.*734A>G rs1027710245 0.00007
NM_001371596.2(MFSD8):c.*1161A>C rs767418097 0.00003
NM_001371596.2(MFSD8):c.*2294G>A rs924270202 0.00003
NM_001371596.2(MFSD8):c.*695A>G rs886059068 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_001371596.2(MFSD8):c.*1455G>A rs979851286 0.00002
NM_001371596.2(MFSD8):c.*2314G>A rs1386466120 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.*1471T>C rs886059066 0.00001
NM_001371596.2(MFSD8):c.*2146A>G rs750676275 0.00001
NM_001371596.2(MFSD8):c.*2214A>G rs886059065 0.00001
NM_001371596.2(MFSD8):c.*2270G>C rs886059064 0.00001
NM_001371596.2(MFSD8):c.*250G>A rs980825570 0.00001
NM_001371596.2(MFSD8):c.*2592A>G rs924357088 0.00001
NM_001371596.2(MFSD8):c.*2683C>T rs886059063 0.00001
NM_001371596.2(MFSD8):c.*369G>A rs534031511 0.00001
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013 0.00001
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu) rs760640742 0.00001
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val) rs1427310721 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val) rs150892838 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001371596.2(MFSD8):c.*1280T>A rs146441639
NM_001371596.2(MFSD8):c.*1603C>T rs536079775
NM_001371596.2(MFSD8):c.*1709G>C rs1736073397
NM_001371596.2(MFSD8):c.*1918T>C rs1736059247
NM_001371596.2(MFSD8):c.*1969G>C rs547746685
NM_001371596.2(MFSD8):c.*2010T>C rs1736052846
NM_001371596.2(MFSD8):c.*208C>T rs886059069
NM_001371596.2(MFSD8):c.*2369C>G rs150664430
NM_001371596.2(MFSD8):c.*414C>A rs566768714
NM_001371596.2(MFSD8):c.*492A>T rs534206104
NM_001371596.2(MFSD8):c.*839C>A rs886059067
NM_001371596.2(MFSD8):c.*842T>G rs1736132516
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001371596.2(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=) rs1739848967
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser) rs773799172
NM_001371596.2(MFSD8):c.998+13T>C rs1737968072

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