ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts by Counsyl

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_015166.4(MLC1):c.177+15A>G rs148099137 0.00092
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.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015166.4(MLC1):c.136del (p.Cys46fs) rs1057516766 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile) rs1227088497 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_015166.4(MLC1):c.-59-1G>C rs1555968825
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
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.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.4(MLC1):c.321+1G>T rs765879182
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.423+2dup rs1555967668
NM_015166.4(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.4(MLC1):c.448del (p.Leu150fs) rs1555967227
NM_015166.4(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg) rs886057625
NM_015166.4(MLC1):c.771+2dup rs1555965439
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.4(MLC1):c.895-1G>C rs755271052
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
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
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313

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