ClinVar Miner

List of variants in gene MLC1 reported as likely benign for Megalencephalic leukoencephalopathy with subcortical cysts

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00033
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr) rs201522059 0.00021
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015166.4(MLC1):c.120G>A (p.Ser40=) rs557978926 0.00007
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015166.4(MLC1):c.648C>A (p.Ala216=) rs765062227 0.00004
NM_015166.4(MLC1):c.1026C>G (p.Thr342=) rs201417187 0.00003
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser) rs746212879 0.00003
NM_015166.4(MLC1):c.486C>T (p.Ile162=) rs754667390 0.00002
NM_015166.4(MLC1):c.1071C>T (p.Ser357=) rs1270153559 0.00001
NM_015166.4(MLC1):c.*1368dup rs200990035
NM_015166.4(MLC1):c.*1981dup rs145385166
NM_015166.4(MLC1):c.*377_*378insGGGGGTC rs141063000
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601

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