ClinVar Miner

List of variants reported as likely benign for leukoencephalopathy, megalencephalic by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.177+77G>A rs55751312 0.02752
NM_015166.4(MLC1):c.894+128C>T rs11568181 0.00612
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_015166.4(MLC1):c.1053T>C (p.Ala351=) rs11568190 0.00056
NM_015166.4(MLC1):c.1059+13C>T rs775704952 0.00023
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_015166.4(MLC1):c.1059+20A>T rs746438468

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