ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 48 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.*953T>C rs11976063 0.11462
NM_014855.3(AP5Z1):c.*1687T>C rs76039626 0.09958
NM_014855.3(AP5Z1):c.*1505C>T rs73305396 0.09937
NM_014855.3(AP5Z1):c.*378T>C rs12154696 0.06569
NM_014855.3(AP5Z1):c.*276T>C rs12154622 0.06486
NM_014855.3(AP5Z1):c.*761G>A rs115198050 0.06399
NM_014855.3(AP5Z1):c.*1355G>A rs6967542 0.06387
NM_014855.3(AP5Z1):c.*205G>A rs73305394 0.05882
NM_014855.3(AP5Z1):c.*2093A>G rs7784925 0.05677
NM_014855.3(AP5Z1):c.*250T>G rs12154621 0.04580
NM_014855.3(AP5Z1):c.*665T>C rs78468795 0.04423
NM_014855.3(AP5Z1):c.*1555C>G rs78049494 0.04406
NM_014855.3(AP5Z1):c.*1182C>T rs11971803 0.04393
NM_014855.3(AP5Z1):c.*2286G>A rs111762282 0.04368
NM_014855.3(AP5Z1):c.*922C>T rs11971749 0.04290
NM_014855.3(AP5Z1):c.*2882A>G rs113428873 0.03836
NM_014855.3(AP5Z1):c.*1441C>T rs112405589 0.02801
NM_014855.3(AP5Z1):c.*68G>A rs73305393 0.01965
NM_014855.3(AP5Z1):c.2098G>A (p.Val700Met) rs11766611 0.01795
NM_014855.3(AP5Z1):c.*2197A>G rs187056670 0.01683
NM_014855.3(AP5Z1):c.333G>C (p.Gln111His) rs11549840 0.01556
NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=) rs117666541 0.01551
NM_014855.3(AP5Z1):c.*856G>A rs148032002 0.01546
NM_014855.3(AP5Z1):c.*901C>T rs112176131 0.01465
NM_014855.3(AP5Z1):c.2379G>T (p.Thr793=) rs77393809 0.01379
NM_014855.3(AP5Z1):c.281C>G (p.Ser94Cys) rs11549839 0.01367
NM_014855.3(AP5Z1):c.*586T>C rs34767537 0.01362
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162 0.01129
NM_014855.3(AP5Z1):c.1708-5C>T rs184752711 0.00977
NM_014855.3(AP5Z1):c.*2198G>C rs148554790 0.00813
NM_014855.3(AP5Z1):c.1132+14G>T rs139019097 0.00792
NM_014855.3(AP5Z1):c.-3G>A rs142983676 0.00667
NM_014855.3(AP5Z1):c.2230G>A (p.Ala744Thr) rs183580097 0.00602
NM_014855.3(AP5Z1):c.-1G>C rs146143723 0.00560
NM_014855.3(AP5Z1):c.*2710A>G rs193143390 0.00410
NM_014855.3(AP5Z1):c.900C>T (p.Tyr300=) rs146915189 0.00319
NM_014855.3(AP5Z1):c.*2812C>T rs144268420 0.00071
NM_014855.3(AP5Z1):c.588C>T (p.Ser196=) rs146665638 0.00053
NM_014855.3(AP5Z1):c.490A>G (p.Ser164Gly) rs202169962 0.00027
NM_014855.3(AP5Z1):c.*1039G>C rs115180718
NM_014855.3(AP5Z1):c.*1039G>T rs115180718
NM_014855.3(AP5Z1):c.*1701C>G rs80311758
NM_014855.3(AP5Z1):c.*2004C>T rs143513418
NM_014855.3(AP5Z1):c.*2500C>T rs139997541
NM_014855.3(AP5Z1):c.*765C>G rs114829927
NM_014855.3(AP5Z1):c.2328C>A (p.Ser776Arg) rs192794637

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