ClinVar Miner

List of variants reported as likely benign for Lethal Encephalopathy

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_012062.5(DNM1L):c.*1120A>G rs143037211 0.01560
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_012062.5(DNM1L):c.*2102_*2103dup rs140265365 0.01081
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_012062.5(DNM1L):c.*1538del rs376738847 0.00152
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_012062.5(DNM1L):c.*1526T>C rs758547863 0.00008
NM_012062.5(DNM1L):c.1597-3_1597-2dup rs768493019 0.00004
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_012062.5(DNM1L):c.*1338C>T rs190574893
NM_012062.5(DNM1L):c.*335_*338dup rs568956138
NM_012062.5(DNM1L):c.*393A>C rs77298476

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