ClinVar Miner

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

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ClinVar version:
Total variants: 76
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HGVS dbSNP
NM_001371596.2(MFSD8):c.*1147G>A
NM_001371596.2(MFSD8):c.*1280T>A
NM_001371596.2(MFSD8):c.*1455G>A
NM_001371596.2(MFSD8):c.*1680A>G
NM_001371596.2(MFSD8):c.*1709G>C
NM_001371596.2(MFSD8):c.*1918T>C
NM_001371596.2(MFSD8):c.*1969G>C
NM_001371596.2(MFSD8):c.*2006A>C
NM_001371596.2(MFSD8):c.*2010T>C
NM_001371596.2(MFSD8):c.*2021C>T
NM_001371596.2(MFSD8):c.*2104T>C
NM_001371596.2(MFSD8):c.*2146A>G
NM_001371596.2(MFSD8):c.*2294G>A
NM_001371596.2(MFSD8):c.*2309G>A
NM_001371596.2(MFSD8):c.*2314G>A
NM_001371596.2(MFSD8):c.*2369C>G
NM_001371596.2(MFSD8):c.*2464C>T
NM_001371596.2(MFSD8):c.*250G>A
NM_001371596.2(MFSD8):c.*2592A>G
NM_001371596.2(MFSD8):c.*369G>A
NM_001371596.2(MFSD8):c.*427G>C
NM_001371596.2(MFSD8):c.*675T>C
NM_001371596.2(MFSD8):c.*734A>G
NM_001371596.2(MFSD8):c.*842T>G
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu)
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
NM_001371596.2(MFSD8):c.998+13T>C
NM_152778.3(MFSD8):c.*1058A>G rs531103173
NM_152778.3(MFSD8):c.*1161A>C rs767418097
NM_152778.3(MFSD8):c.*1471T>C rs886059066
NM_152778.3(MFSD8):c.*1515T>A rs74590222
NM_152778.3(MFSD8):c.*1603C>T rs536079775
NM_152778.3(MFSD8):c.*1794G>T rs79783621
NM_152778.3(MFSD8):c.*208C>T rs886059069
NM_152778.3(MFSD8):c.*2214A>G rs886059065
NM_152778.3(MFSD8):c.*2270G>C rs886059064
NM_152778.3(MFSD8):c.*2405G>A rs11938181
NM_152778.3(MFSD8):c.*2465A>G rs72616968
NM_152778.3(MFSD8):c.*258A>C rs151190415
NM_152778.3(MFSD8):c.*2613T>C rs539367239
NM_152778.3(MFSD8):c.*2683C>T rs886059063
NM_152778.3(MFSD8):c.*2689T>C rs189321020
NM_152778.3(MFSD8):c.*414C>A rs566768714
NM_152778.3(MFSD8):c.*463A>T rs181696565
NM_152778.3(MFSD8):c.*492A>T rs534206104
NM_152778.3(MFSD8):c.*533G>A rs11940642
NM_152778.3(MFSD8):c.*695A>G rs886059068
NM_152778.3(MFSD8):c.*839C>A rs886059067
NM_152778.3(MFSD8):c.-100G>C rs74561222
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013
NM_152778.3(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852
NM_152778.3(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.1205C>T (p.Ser402Leu) rs200745039
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.1287C>T (p.Gly429=) rs138072045
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1351-9C>T rs75039907
NM_152778.3(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.199-8T>C rs112721309
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.288A>G (p.Leu96=) rs1008821019
NM_152778.3(MFSD8):c.37C>G (p.Leu13Val) rs150892838
NM_152778.3(MFSD8):c.421T>C (p.Leu141=) rs778330834
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) rs145529594
NM_152778.3(MFSD8):c.704A>T (p.His235Leu) rs886059070
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.934A>G (p.Ile312Val) rs77098161

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