ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile) rs142346902 0.00050
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu) rs145484765 0.00015
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 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.177+1G>T rs1374593138 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe) rs1289520784 0.00001
NM_015166.4(MLC1):c.251G>A (p.Arg84His) rs1425784992 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.353C>T (p.Thr118Met) rs281875316 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_015166.4(MLC1):c.714+1G>A rs761620701 0.00001
NM_015166.4(MLC1):c.754dup (p.Cys252fs) rs757250956 0.00001
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter) rs1057516465 0.00001
NM_015166.4(MLC1):c.1059+1G>T
NM_015166.4(MLC1):c.1060-2A>G
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.177+1del
NM_015166.4(MLC1):c.177G>A (p.Gly59=) rs2062237520
NM_015166.4(MLC1):c.178-2A>G
NM_015166.4(MLC1):c.218G>A (p.Gly73Glu) rs1602063709
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)
NM_015166.4(MLC1):c.321+2T>C
NM_015166.4(MLC1):c.321+2T>G
NM_015166.4(MLC1):c.322-1G>T
NM_015166.4(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
NM_015166.4(MLC1):c.423+1G>T rs752428321
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
NM_015166.4(MLC1):c.525+2T>C
NM_015166.4(MLC1):c.526-2A>G
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.597+1G>A
NM_015166.4(MLC1):c.597+2T>A rs1425964299
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.639dup (p.Ile214fs) rs1449444164
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
NM_015166.4(MLC1):c.759del (p.Ser254fs)
NM_015166.4(MLC1):c.772-1G>C
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.894+1G>A
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015166.4(MLC1):c.93del (p.Asp31fs)
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_152722.5(HEPACAM):c.665C>T (p.Pro222Leu) rs1947170395
NM_152722.5(HEPACAM):c.922A>G (p.Met308Val) rs1947151824

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