List of variants in gene HEPACAM reported as uncertain significance for Megalencephalic leukoencephalopathy with subcortical cysts

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_152722.5(HEPACAM):c.457_460del	rs72505890	0.13016
NM_152722.5(HEPACAM):c.*460G>T	rs12576272	0.07662
NM_152722.5(HEPACAM):c.456_460del	rs886047924	0.04692
NM_152722.5(HEPACAM):c.*458T>C	rs878911099	0.01425
NM_152722.4(HEPACAM):c.-67G>T	rs28372748	0.00379
NM_152722.5(HEPACAM):c.*363dup	rs577667880	0.00356
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)	rs536963649	0.00087
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)	rs149782549	0.00053
NM_152722.5(HEPACAM):c.636C>T (p.Asp212=)	rs137886095	0.00036
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)	rs201011094	0.00031
NM_152722.5(HEPACAM):c.428-8C>T	rs372037019	0.00029
NM_152722.5(HEPACAM):c.*192T>C	rs886047929	0.00019
NM_152722.5(HEPACAM):c.702C>T (p.Thr234=)	rs143069676	0.00013
NM_152722.5(HEPACAM):c.740C>T (p.Thr247Ile)	rs145619784	0.00011
NM_152722.5(HEPACAM):c.709+12C>T	rs532459336	0.00007
NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu)	rs148838622	0.00007
NM_152722.5(HEPACAM):c.871C>T (p.Pro291Ser)	rs777480834	0.00005
NM_152722.5(HEPACAM):c.*411G>C	rs75424064	0.00004
NM_152722.5(HEPACAM):c.*392C>T	rs886047927	0.00003
NM_152722.5(HEPACAM):c.472C>T (p.Leu158=)	rs781748998	0.00003
NM_152722.5(HEPACAM):c.235G>A (p.Val79Met)	rs764390226	0.00002
NM_152722.5(HEPACAM):c.*88G>T	rs886047933	0.00001
NM_152722.5(HEPACAM):c.469G>A (p.Val157Met)	rs748682631	0.00001
NM_152722.5(HEPACAM):c.*105G>A	rs886047932
NM_152722.5(HEPACAM):c.*112G>A	rs10893303
NM_152722.5(HEPACAM):c.*112G>C	rs10893303
NM_152722.5(HEPACAM):c.*116G>A	rs886047931
NM_152722.5(HEPACAM):c.*116dup	rs886047930
NM_152722.5(HEPACAM):c.*207G>T	rs886047928
NM_152722.5(HEPACAM):c.*342G>A	rs1947121103
NM_152722.5(HEPACAM):c.*419G>C	rs886047926
NM_152722.5(HEPACAM):c.*459T>C	rs200659876
NM_152722.5(HEPACAM):c.*459T>G	rs200659876
NM_152722.5(HEPACAM):c.459_460insCC	rs886047925
NM_152722.5(HEPACAM):c.*83G>A	rs774632092
NM_152722.5(HEPACAM):c.1060C>T (p.Pro354Ser)	rs1947134249
NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=)	rs1027354479
NM_152722.5(HEPACAM):c.15G>T (p.Arg5Ser)	rs866054353
NM_152722.5(HEPACAM):c.217C>G (p.Arg73Gly)	rs768471108
NM_152722.5(HEPACAM):c.254C>T (p.Thr85Ile)	rs886047935
NM_152722.5(HEPACAM):c.291C>G (p.Asp97Glu)	rs886047934
NM_152722.5(HEPACAM):c.573G>C (p.Ser191=)	rs538960313
NM_152722.5(HEPACAM):c.803+6G>A	rs544709540

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