ClinVar Miner

List of variants studied for megalencephalic leukoencephalopathy with subcortical cysts 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=) rs35466065 0.00669
NM_015166.4(MLC1):c.932T>A (p.Val311Glu) rs141225099 0.00622
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met) rs770477104 0.00024
NM_015166.4(MLC1):c.1008G>T (p.Gln336His) rs139336504 0.00020
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=) rs780208452 0.00017
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys) rs146398351 0.00005
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00004
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile) rs200273593 0.00003
NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp) rs768700664 0.00003
NM_015166.4(MLC1):c.321+1G>A rs765879182 0.00001
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser) rs766524233 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.525+1G>A rs769135961 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp) rs768471108 0.00001
NM_015166.4(MLC1):c.1059+1G>A rs1555963392
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.255T>G (p.Cys85Trp) rs2146932748
NM_015166.4(MLC1):c.424-1G>A
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu) rs1219458189
NM_015166.4(MLC1):c.594_597+2delinsTTCGGC
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015166.4(MLC1):c.597+2T>C
NM_015166.4(MLC1):c.604G>A (p.Glu202Lys)
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg) rs281875315
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu) rs1050220787
NM_015166.4(MLC1):c.895-2_898delinsCTTCTG
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015166.4(MLC1):c.909GCT[5] (p.Leu309_Leu310del)
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter) rs1569242061
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile) rs746134081

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