ClinVar Miner

List of variants reported as uncertain significance for leukoencephalopathy, megalencephalic by Counsyl

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.983G>A (p.Arg328His) rs145376667 0.00022
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile) rs1227088497 0.00001
NM_015166.4(MLC1):c.-59-1G>C rs1555968825
NM_015166.4(MLC1):c.1065del (p.Arg356fs) rs1555962643
NM_015166.4(MLC1):c.1076del (p.Leu359fs) rs1372842345
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.771+2dup rs1555965439
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup) rs761096481
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln) rs540358165

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